Fragile X Syndrome
An Inherited Intellectual Disability
Fragile X syndrome (FXS) is a genetic disorder located on the X chromosome resulting in the only known inherited intellectual disability. FXS is caused by a defect in the FMR1 (fragile X mental retardation 1) gene which triggers the brain to produce too little of a special protein therefore preventing the brain from developing normally. Carriers can pass down the FXS premutation for many generations without any signs of the disorder until the full mutation appears. A normal range of the protein production in an FMR1 allele will have a pattern of CGG repeats between 6-54. A carrier with the premutation of the FXS gene will have a CGG pattern of repeats between 55-200. An individual is considered to have the full mutation of the FMR1 gene when the CGG repeat pattern exceeds 200. (Genetics and Inheritance, para. 8-10) Individuals who suspect they may be a carrier of FXS due to a family history of the disorder should seek the assistance of a genetic councilor prior to conception. The result of the genetic test will indicate whether or not the mutation is present and if so, what level the mutation is at in the individual.
Interesting fact: Males with FXS can only pass the gene on to their daughters while Females can pass the gene to their daughters or sons.
Probability of inheriting FXS:
- Males 1 in 4,000
- Females 1 in 6,000
One way to ensure early identification of FXS would be to have the genetic test added to the list of tests completed during the newborn screening blood test done when an infant is twenty four hours old to seven days old. Since FXS is not currently one of the developmental, genetic, and metabolic disorders tested during newborn screening, identification of FXS relies on parents and physicians recognizing the symptoms of the disorder. Due to the fact that FXS is rarely the only intellectual disorder an individual has, identifying the presence of the gene without genetic testing is difficult. Additionally, the physical signs of FXS may not become present until after puberty.
Symptoms of FXS:
- Delayed crawling, walking or twisting
- Hand clapping or biting
- Arm flapping
- Hyperactive behavior
- Speech and language delay
- Tendency to avoid eye contact
Possible Male Physical Signs of FXS:
- Large body
- Large forehead or ears
- Long face
- Flat feet
- Soft skin
- Double jointed
- Enlarged testicles (after puberty)
**** Females with FXS are more likely to look like the general population but may develop some of the same physical characteristics as the males. ****
- Shyness or socially anxious
- Outgoing and engaging
- Autistic-like behaviors (example: hand flapping and lack of eye contact)
- Easily distractible
- Susceptible to sensory overload
- Transition difficulties
There is no specific treatment for citizens with Fragile X. However, therapy and medications used for other disorders can help a citizen with FXS overcome some elements of their disorder. For example, speech therapy can help overcome language issues and medication can help with anxiety disorders.
Interesting fact: The range in intellectual disabilities in citizens with Fragile X is broad. A citizen with FXS can have an IQ below normal (<70) or above normal. IQ scores tend to decline over time, especially during puberty. (Symons, Clark, Roberts and Bailey, p. 194)
The chart below published by Bailey, Raspa, Olmsted and Holiday in 2008 shows the frequency by which citizens with FXS are also working to overcome a second serious disability. Knowing citizens with FXS have no specific treatment plan and are usually dealing with an additional disability creates an extra challenge to educators when developing a plan for inclusion.
Teaching Strategies and Interventions:
- Provide a calm, quiet classroom environment
- Teach the student to request breaks when they need it
- Use manipulatives, visual materials, videos, models and post-it notes to aid the learning process
- Provide completion or closure to activities and lessons
- Identify students strengths and utilize those whenever possible
- Provide positive reinforcements such as “high fives” rather than hugs because personal contact can over-stimulate children with FXS
- Develop a sensory diet with the aid of an occupational therapist to minimize sensory overload
- Utilize inclusion whenever possible
Assistive Technology (complex and simple):
- Special chair for a student with low muscle tone
- Computer and special mouse for a student struggling with writing or verbal communication
- Sticky notes provide a quick alternative way to communicate
- Communication board for students who are not yet speaking
- GEMSS – Genetics Education Materials for School Success (http://www.gemssforschools.org/conditions/fragile-x/default). This website contains a quick explanation of Fragile X Syndrome, educational supports and additional resource links to assist teachers in planning successful lessons.
- The National Fragile X Foundation (http://www.fragilex.org/treatment-intervention/education/). The NFXF website contains a link to a comprehensive Lesson Planning Guide for Students with Fragile X Syndrome. The guide contains lesson suggestions for teaching both Language Arts and Math to students with FXS who have varying levels of intellectual disabilities.
- Special Education Support Services (http://www.sess.ie/categories/assessed-syndromes/fragile-x/tips-learning-and-teaching) is a website based in Ireland that contains additional resources, links and quick tips for teaching students with intellectual disabilities. As educators we should be open to looking outside of our own culture for solutions to our problems. Both Ireland and Australia have multiple online resources supporting FXS.
Family and Community Resources
- Fragile X Clinic Locator (a part of The National Fragile X Foundation) 800-608-8765
- Family Voices (http://www.familyvoices.org/about?id=0003) This national grassroots network provides families of children with disabilities resources and support to make informed decisions, advocate for improved public and private policies, build partnerships among families and professionals, and serve as a trusted resource on health care.
- Connecting with other families who have a family member with FXS can be empowering, reassuring and alleviate the feeling that they as caregivers are alone. Some of the resources available to families are books (Fragile X Fragile Hope: Finding Joy In Parenting A Child with Special Needs), blogs from other people raising a child with FXS (http://www.basicallyfx.com/) and local support groups such as The Maryland Fragile X Resource Group (http://www.mdfragilex.org/).
- Apps! Both apple and android products support apps for children with special needs. Check out Apple’s App Store who recently add a section dedicated to apps for users with special needs which work on iPads, iPhones and iPods. Categories include communication, life skills and emotional development. (http://www.friendshipcircle.org/blog/2010/10/27/assistive-technology-special-education-now-in-app-store/)
An FXS Journey
Watch the video below by Congressmen Greg Harper explaining the process his family went through to get to a diagnosis of Fragile X Syndrome for his son.
Bailey, D. B., Raspa, M., Olmsted, M. and Holiday, D. B. (2008), Co-occurring conditions
associated with FMR1 gene variations: Findings from a national parent survey. Am. J.
Med. Genet., 146A: 2060–2069. doi: 10.1002/ajmg.a.32439
Braden, Marcia. Braden on Behavior: Navigating the Road to Inclusion. The National
Fragile X Foundation Quarterly, Issue 41, June 2011,
Braden, M., Riley, K., Zoladz, J., Howell, S., & Berry-Kravis, E. (2013, September).
Educational Guidelines for Fragile X Syndrome: General. Retrieved April 7, 2015, from
Genetics and Inheritance. (n.d.). Retrieved April 7, 2015, from
Lesson Planning Guide. (n.d.). Retrieved April 7, 2015, from
Symons, F. J., Clark, R. D., Roberts, J. P., & Bailey,Donald B.,Jr. (2001). Classroom
behavior of elementary school-age boys with fragile X syndrome. The Journal of
Special Education, 34(4), 194-202. Retrieved from http://ezproxy.aacc.edu/login
Zieve, D., & Eltz, D. (2014, April 14). Fragile X syndrome. Retrieved April 7, 2015, from