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

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Fragile X syndrome

Fragile X syndrome

Defenition: A genetic disorder which can cause cognitive impairment and a number of other physical and behavioural characteristics. Some of these behaviours, such as poor eye contact, hand flapping, and poor social skills, also occur in children with autism. While most children with Fragile X Syndrome do not have all the characteristics of autism, about 15% to 33% are diagnosed as autistic. Individuals can be tested for "Fragile X" by having a blood test and having their chromosomes examined by a geneticist.

Presentation by: Michael Garrett Logan

What is Fragile X Syndrome?

* According to the National Fragile X foundation, “fragile X syndrome is the most common cause of mental impairment”
* Impairments range from learning disabilities to severe cognitive disabilities to intellectual disabilities.
* Fragile X is the most common known cause of autism and autism like behaviors.

http://www.fragilex.org

What causes Fragile X Syndrome
* Fragile X syndrome is a genetic disorder passed from parent to offspring through DNA.
* It is caused by mutation of the FMR1 gene (Fragile X mental retardation 1) on the X chromosome.
* This mutation is the result of a trinucleotide repeat disorder.
* A section of the FMR1 DNA usually repeats a sequence known as CGG (cytosine, guanine & guanine) 30-55 times. For someone with Fragile X syndrome, this section repeats itself 200-800 times.
* This causes the FMR1 gene not to produce the FMRP (Fragile X mental retardation protein).
* Mutation of this gene can vary between premature mutation and full mutation.

Other disorders associated with this gene mutation:
* fragile x associated tremor/ataxia
* fragile x associated POF (premature ovarian failure)

Demographics
Characteristics

* Fragile X Syndrome (FXS) affects people in a variety of ways. In some carriers these characteristics are hardly noticeable, while in others these characteristics are extremely evident.
* FXS can affect physical appearance, cognitive abilities, behavior, sensory capabilities; and speech and language.

Physical Characteristics
* Distinctive facial features.
* Connective tissue problems
* Macroorchidism (enlarging of the testicles)


Cognitive Development in Males
Cognitive Development in Girls
Behavioral Characteristics
Positive: sweet, loving, desire for social interaction
Behavioral difficulties: ADHD symptoms, hand flapping, chewing/biting (skin, clothes), sensory defensiveness, anxiety, coprolalia (repetitive bursts of swearing), autistic related behaviors, psychosis, schizophrenia, tics
Sensory Processing Problems
* Many behavioral problems are associated with sensory processing disorders common in FXS patients
* Sensitive to light, sound and touch.
* High difficulty maintaining eye contact

Speech and language difficulties
Impact on The Individual
Daily Impact
* Daily living skills are a challenge for FXS patients and their families.
* Sleep: infants struggle to go to sleep, bedding is irritating, children and adults awaken in the middle of the night and wander
* Eating: Breast feeding for infants is difficult, children over fill their mouths when eating, they have trouble chewing and are extremely picky about what they eat.
* Dressing: Parents or caregivers must pay attention to what fabrics FXS patients wear. They may need extra assistance at young ages due to low muscle tone.
* Hygiene: bathing, shaving and brushing teeth are difficult due to hyper stimulation.
* Toilet training: difficult due to developmental delays.

Diagnoses
Treatments
* There is no cure for FXS
* Treatments include: specialized education, speech & occupational therapy, sensory integration training, behavior modification and possible corrective heart surgery, ADHD medications and folic acid.
* Genetic Counseling

Educational Interventions

Fragile X syndrome.ppt

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PubMed Search Engines Resource Guide

PubMed Search Engines Resource Guide

This information is provided by Margaret Henderson, Librarian VCU Libraries

There is more than one way to search the medical literature (PubMed) stored at the National Library of Medicine. Entrez is the search engine created by NLM to search PubMed, but just like there are multiple search engines to search the Internet (Google, Netscape, etc.) there are multiple engines that can be used to search PubMed. As different groups and people have needed different things from the literature, they have created front-ends or 3rd party tools to search the medical literature. Some of these PubMed interfaces are useful if your specific needs correspond to those of the search tool.

Full details here

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