December 2, 2013
Script for Fragile X Presentation
FRAGILE X SYNDROME
Fragile X syndrome (FXS) is a genetic disorder and the leading cause of inherited mental retardation. Children with this syndrome often have significant delays in learning, autistic-like behavior, hyperactivity, and a distinctive physical appearance
The term “fragile X” comes from the finding that the X chromosomes of affected individuals have a fragile site that causes the chromosome to break under certain test conditions.
The gene causing fragile X, FMR-1, is located on the X chromosome at the so-called “fragile” site that gives the syndrome its name. The protein it produces is believed to play a role in brain development. The FMR-1 gene was found to contain repeats of a particular 3-base CGG sequence. When the length of this repeat becomes too long it causes Fragile X syndrome.
THERE IS NO CURE FOR FRAGILE X SYNDROME
It is more common and severe in boys than girls
Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect males more severely. You can have fragile X syndrome even if your parents do not have it.
It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears
Pictures of two boys with Fragile X characteristics
Large head, long narrow face, prominent forehead , jaw, and large ears. 2.
Low muscle tone.
Crossed eyes (Strabismus).
High arched palate in the mouth.
FEATURES OF FRAGILE X IN FEMALES
Same as males but often milder.
1/3 of FXS females have a significant intellectual disabilities. 3.
Can have moderate or mild disabilities
A small % of females can have the full mutation of the FMR1 gene without any signs of FXS. This is often discovered after another family member is diagnosed
Pictures of two girls with Fragile X characteristics
Chart of male and female with Fragile X characteristics
Not noticeable at birth.
First signs is all developmental stages are significantly delayed. 3.
Sensory intergration dysfunction is evident
Social, behavioral, and emotional problems are prevalent. 5.
Can be shy and anxious with people they don’t know.
Avoidance of eye contact and sterotypic body movements are common. 7.
May have attention deficits, hyperactivity, and impulse behavior.
POSSIBLE MEDICAL PROBLEMS
Digestive disorders (gagging and Vomiting).
Ear and sinus infections.
Curvature of the spine.
FXS and AUTISM
FXS is a medical (genetic) diagnosis.
Autism is a behavioral diagnosis.
15-33% of children with FXS have Autism
While only 2-6% of children with Autism have FXS
FXS by the Numbers
1in 3600-4000 males have FXS
1in 4000-6000 females have FXS
1million in USA carry FX mutation. 100,000 will haveFXS •
1in 4000 males are born with a full mutation of FX- most will have FXS •
1in 6000 females are born with a full mutation of FX-50% with full mutation will have some features of FXS •
1 in 800 men worldwide are carriers of the FX premutation •
1in 260 women worldwide are carriers of the FX premutation
The earlier a child with FXS is identified, the earlier care goals can be set. •
It may be in a child care program that a child’s development delays are first recognized. •
It is important to have the parents take the child in for a medical evaluation as soon as any deviations in development or...
Please join StudyMode to read the full document