A G enetic Malady Causes Mutations in the FMR1 gene FMR1 causes the production of a protein called fragile X Used to create synapses An over abundance of this protein leads to the diagnosis of Fragile X Syndrome ID: 358073
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Slide1
Fragile X Syndrome
A
G
enetic MaladySlide2
Causes
Mutations in the FMR1 gene
FMR1 causes the production of a protein called fragile X
Used to create synapses
An over abundance of this protein leads to the diagnosis of Fragile X Syndrome
Leads to intellectual disabilities and physical symptoms such as prominent ears and angular facial structure
Considered an Autism-like disabilitySlide3
History
1943: Martin and Bell determined that a specific form of intellectual disability was linked to the X
protein
1969: Herbert
Lubs
created the
chromosomal
test for Fragile X Syndrome
However, test was not widely used until the late 70s
1991: FMR1 was identified in the human genome Slide4
Research
Pediatrics: Official Journal of the Academy of Pediatrics
publish an article detailing advancements in the treatment for Fragile X Syndrome
Focuses on the treatment of attention deficiencies and aggression through pharmaceutical means
CDC has conducted and hosted several studies that focused
prevalence
and treatment
NHI has also studied Fragile X Syndrome but most studies tie treatment to AutismSlide5
Characteristics
Developmental
delays (not sitting, walking, or talking at
age)
Learning disabilities (trouble learning new
skills and maintaining skills)
Social and behavior problems (such
low eye
contact, anxiety, trouble paying attention, hand flapping, acting and speaking
out, hyper-activity)Slide6
Characteristics
Physical features: large ears, long face, soft skin and large testicles
Connective tissue problems may include ear infections
Flat feet, high arched palate, double-jointed fingers and hyper-flexible joints
Anxiety and stress issues
Over-sensitivity to sensory inputSlide7
Faces of Fragile X SyndromeSlide8
Possibilities, Childhood, Adolescence
National Fragile X Foundation offers a
guide to help parents
Guide outlines transitioning children into adolescence and adulthood
Site includes videosSlide9
What do you need to know?
Prevalence of anxiety issues requires a soft hand when introducing child to novel ideas
Minimize anxiety causing situations
Promote positive peer interaction
Encourage activities that child enjoys
Consistency
Social
Stories to help child growSlide10
Modifications and Adaptations
Fragile X Planning Guide
BE FLEXIBLE
Promote executive function
Work around direct questions
use
a “fill-in” or “closure”
technique
Elicit an answer rather than leave it open endedSlide11
Modifications Continued
No time out but Sit out
Remove students from activity but keep within range
Work backwards
Start from the end of a task then work backwards to show the process
Interest inventory
Learn what the student likes and build on that
Sensory Diet is a must for the over sensitivity to sensory input
Be clear and transition students to next activity
Page 20 of Fragile X
planing
guide provides an extensive checklist for the classroom.Slide12
Implications
Do not get discouraged
Consistency in any way possible
Self-care
Professionals and paraprofessionals need to practice self-care to be better for students
Students may be in general education classes
General education teacher may need support from special educator or therapistsSlide13
Resources
http://geneticdisordersandimpairments.wikispaces.com/Fragile+X+-+Classroom+Adaptations
http://fraxa.org/Default.aspx
http://fraxa.org/Default.aspx
http://www.livingwithfragilex.com/
http://www.cdc.gov/ncbddd/fxs/index.html
http://nichcy.org/babies/overview
http://ghr.nlm.nih.gov/condition/fragile-x-syndrome
http://ghr.nlm.nih.gov/gene/FMR1
http://www.friendsforfragilex.org/research/Journal%20of%20Pediatrics%20Article%20on%20Fragile%20X%20(2009).pdf
http://www.fragilex.org/wp-content/uploads/2012/01/Lesson-Planning-Guide-for-Students-with-FXS.pdf
http://www.cdc.gov/ncbddd/fxs/
articles.htmlhttp://www.fragilexcanada.ca/index.php?id=112,0,0,1,0,0
http://www.fragilex.org/treatment-intervention/adults-life-planning/adolescent-and-adult-project/