fragile x syndrome a genetic malady. causes mutations in the fmr1 gene fmr1 causes the production of...
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Fragile X Syndrome
A Genetic Malady
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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 disability
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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
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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 Autism
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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)
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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 input
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Faces of Fragile X Syndrome
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Possibilities, Childhood, Adolescence
• National Fragile X Foundation offers a guide to help parents
• Guide outlines transitioning children into adolescence and adulthood
• Site includes videos
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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 grow
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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 ended
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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.
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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 therapists
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Resources• http://geneticdisordersandimpairments.wikispaces.com/Fragile+X+-+Clas
sroom+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/ado
lescent-and-adult-project/