FRAGILE X SYNDROME
What is Fragile X Syndrome?
Symptoms of Fragile X Syndrome:
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Intellectual disability
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ranges from mild to severe
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anxiety and unstable mood
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autistic behaviors
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hand flapping
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not making eye contact
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sensory integration problems
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hypersensitivity
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loud noises
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bright lights
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speech delay
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epilepsy (affect 10% of people with fragile x syndrome)
"Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment"(Genetics Home Reference). It is a genetic disorder that effects the fragile site on the X chromosome. This faulty gene is passed down from generation to generation. Having the gene be passed onto to you, you may even become only a carrier. The faulty gene coming down from a female has a 50% chance of passing it onto her son or daughter.
Photo from: SyndromesPedias
Instructional Strategies
"While giving instructions in a learning environment, a student who is diagnosed with Fragile X Syndrome, will most likely respond positively in a calm and quiet classroom environment." The Educational Guidelines for Fragile X says, "Consider distractibility and anxiety issues when arranging seating for student e.g. avoid the middle of a group, seat the student away from doorways and a/c or heating." Playing music in the background, comfortable room temperature, etc can help with a calm and quiet environment. Give the student multiple breaks throughout the day and allow them to move around the classroom. A student with Fragile X works better when he or she has their own space. When giving verbal instructions, it helps when there is a demonstration or visual direction for the student.
Useful Websites
Research
How Close are We to a Cure for Fragile X?
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In this research, FRAXA Funded Research Team is trying to find a cure by testing different drugs. They say they "have a growing list of available drugs that have shown promise in preclinical testing, but are still waiting for clinical trials".
Fragile X Syndrome: Research Activities and Scientific Advances
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This research says, they "have found that a class of drugs called PI3 kinase inhibitors can correct defects in the anatomy of neurons in a mouse model of Fragile X syndrome". This drug helps "restore the production at synapses, suggesting that PI3 kinase inhibitors could help improve learning and cognition in individuals with Fragile X syndrome".
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"Activity-dependent synaptic remodeling occurs during early-use critical periods, when naive juveniles experience sensory input. Fragile X mental retardation protein (FMRP) sculpts synaptic refinement in an activity sensor mechanism based on sensory cues, with FMRP loss causing the most common heritable autism spectrum disorder (ASD), fragile X syndrome (FXS). In the well-mapped Drosophila olfactory circuitry, projection neurons (PNs) relay peripheral sensory information to the central brain mushroom body (MB) learning/memory center. FMRP-null PNs reduce synaptic branching and enlarge boutons, with ultrastructural and synaptic reconstitution MB connectivity defects. Critical period activity modulation via odorant stimuli, optogenetics, and transgenic tetanus toxin neurotransmission block show that elevated PN activity phenocopies FMRP-null defects, whereas PN silencing causes opposing changes. FMRP-null PNs lose activity-dependent synaptic modulation, with impairments restricted to the critical period. We conclude that FMRP is absolutely required for experience-dependent changes in synaptic connectivity during the developmental critical period of neural circuit optimization for sensory input."
Resources
Amarendra, A. (2016). Fragile X Syndrome – What is?, Symptoms, Causes, Treatment, Dominant or Recessive. Retrieved December 05, 2017, from https://syndromespedia.com/fragile-x-syndrome-what-is-symptoms-causes-treatment.html#.Widqa0qnHIU
Educational Guidelines for Fragile X Syndrome: Genera. (2013). Consensus of the Fragile Clinical & Research Consortium on Clinical Practices, 1-9. Retrieved December 5, 2017, from http://www.fragilex.org/wp-content/uploads/2012/08/Educational-Guidelines-for-Fragile-X-Syndrome-General2013-Sept.
Fragile X syndrome - Genetics Home Reference. (2017, November 28). Retrieved December 05, 2017, from https://ghr.nlm.nih.gov/condition/fragile-x-syndrome