1. Fragile X Syndrome A Genetic Malady

2. 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

3. 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

4. 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

5. 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)

6. 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

7. Faces of Fragile X Syndrome

8. Possibilities, Childhood, Adolescence National Fragile X Foundation offers a guide to help parentsguide to help parents Guide outlines transitioning children into adolescence and adulthood Site includes videos

9. 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

10. 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

11. 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.

12. 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

13. Resources http://geneticdisordersandimpairments.wikispaces.com/Fragile+X+- +Classroom+Adaptations http://geneticdisordersandimpairments.wikispaces.com/Fragile+X+- +Classroom+Adaptations 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.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.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.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/ http://www.fragilex.org/treatment-intervention/adults-life-planning/adolescent- and-adult-project/