Fragile X Syndrome

A Genetic 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• Leads to intellectual disabilities and physical

symptoms such as prominent ears and angular facial structure

• Considered an Autism-like disability

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

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

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)

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

Faces of Fragile X Syndrome

Possibilities, Childhood, Adolescence

• National Fragile X Foundation offers a guide to help parents

• Guide outlines transitioning children into adolescence and adulthood

• Site includes videos

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

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

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.

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

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/