Fragile X Syndrome

Fragile X Syndrome
By: Mary Beth Oliver, Megan Lawrence, Kayla Sink

An inherited disorder caused by a defective gene on the X-chromosome and causing mental retardation, enlarged testes, and facial abnormalities in males and mild or no effects in heterozygous females.

Cause/Origin
* In a normal cell there are 23 pairs of chromosomes.
* The first 22 pairs are the same in both males and females.
* The 23rd pair is what makes a person a boy or girl
* X and Y make a person a male and two X chromosomes make a person a female
* On the X chromosome is a gene that is known as FMR-1, this is where the mutation occurs and causes Fragile X
* The FMR-1 gene is thought to play an important role in the development of the brain
Video:
http://www.youtube.com/watch?v=wGdH1M5lCVY


Prevalence
* affects both males and females from all races and backgrounds
* more men are affected and tend to have more severe traits than the women
* more than 80% of males with Fragile X have an IQ of 75 or below
* women often have less severe impairments than men

Characteristics
* most common characteristics are mental impairments and learning disabilities
* long face and large ears
* problems with sensation, emotion, and behavior
* developmental delay and mental retardation
* speech delay and excessive tiredness
* autism or autistic-like behavior
* delayed motor development

Educational Implications
Calming techniques
* beanbag chair
* watching a video
* music
* have a “safe place” where students can go to on request and calm down

Modified Environments
* sit student near teacher and away from distractions
* be aware of noises
* activity level
* lights and sensory overload for each individual child

Structured plans
* display clear schedule in classroom
* have clear expectations
* picture schedules help visualize transitions

Appropriate cues
* visual cues for sequence of events
* timers
* countdowns

Interactive lessons
* short tasks
* opportunities to move around

Plan a sensory diet
* engage the student in an activity known to be calming such as wearing weighted clothing
* jumping on a trampoline
* brushing

Instructional Implications
* Make note of the activities that cause your student to become over stimulated
* Teach students how to organize their steps for a task and how to ask questions
* Use step by step instructions
* Use the “fill in” or “closure” technique opposed to a direct question.
Ex. Instead of asking “What was your favorite part of the story?” ask “When the boy jumped off of the wall….”

Instructional Implications
* Focus on student’s personal interests as much as possible when teaching.
* Having students or parents fill out an interest inventory can help you find ways to engage students in learning more effectively.
* Allow use of word processing when appropriate.
* Use concrete objects and realistic contexts.
* Pause during verbal presentations to give more process time.
* Give alternative methods for responding

Other Professionals Involved
* The school's social worker or counselor can help students create plans and set goals for maturing their social skills.
* The occupational therapist, physical therapist and speech pathologist may work together to come up with a multi-dimensional plan for students with fragile X.
* Be an advocate for you student and make sure they are receiving the services that they are entitled too.

FYI
* Achievement tests tend to be better measures of students abilities because students with Fragile X tend to perform better than predicted by IQ tests.
* Students with fragile X often have a strong need for closure and perfection.
* Students with fragile X often experience a longer “rest” from learning or plateau, but do not take this as the student’s peak of intelligence. Students with fragile X need this rest time to take in their material and will continue to learn throughout their whole life.
* There is no cure for fragile X, but treatment and intervention strategies are available for the various symptoms of fragile X.


Resources

* http://www.youtube.com/watch?v=wGdH1M5lCVY
* http://www.medicinenet.com/fragile_x_syndrome/article.htm
* http://www.flickr.com/search/?q=fragile+x+syndrome
* http://www.emedicine.com/ped/topic800.htm
* http://geneticsmodules.duhs.duke.edu/Design/images/fragileX.jpg
* http://www.fragilex.org/html/home.shtml
* http://www.nichd.nih.gov/health/topics/fragile_x_syndrome.cfm
* Lesson Planning Guide for Students with Fragile X: http://www.fragilex.org/FXSBinderReprint0804.pdf


Fragile X Syndrome.ppt