Fragile X presentation
Download as PPTX, PDF6 likes9,345 views
This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
Fragile X presentation
- 1. Kelsey Sokol
- 2. Most commonly inherited cause of mental impairment 1 in 3600 males and 1 in 4000 to 6000 females are affected Caused by mutated FMR1 gene on the X chromosome Gene discovered in 1991 No cure but certain therapies can help
- 3. Intellectual disability Significant in the majority Learning disability to mental retardation to autism Usually strengths and weaknesses Good memories for pictures and visual patterns Learn in simultaneous fashion instead of sequential Can be hard to teach reading Speak in rapid bursts, repeat words or perservation Physical features Large ears Long face with prominent chin
- 4. Connective tissue Flat feet Ear infections Double jointed Behavioral ADD/ADHD Mood swings and temper tantrums Speech disorders Poor eye contact Extreme hypersensitivity to environment Strange responses to visual/auditory stimuli and touch Very friendly and social
- 5. Intellectual disability usually milder than in males Significant disability seen in around 1/3 of females Many are disabled in math but excel in reading and spelling 1/3 have symptoms like schizophrenia Ex: prefer social isolation Physical and behavioral problems Same as in males but usually milder
- 6. Fragile X Mental Retardation 1 (FMR1) gene on the end of the X chromosome Normally about 30 repeats of CGG Premutation: 55-200 repeats Full mutation: more than 200 repeats
- 7. Encodes for fragile x mental retardation 1 protein Protein appears in many tissues and throughout the brain Role in synapse development and neuroplasticity, assisting in learning and memory Shuttles mRNA in cell between nucleus and protein assembly areas Helps control when mRNA is used to build proteins May be found in lungs, kidneys, liver, and spinal chord but other proteins called FXR1 and FXR2 may compensate here Exact role is still unknown
- 8. Do not show typical signs Most are intellectually normal with mild physical features May have some emotional problems Can cause other health related problems Can have affected children
- 9. Because of repetitions of CGG, gene become very unstable Under microscope it looks broken or fragile Gene is silenced – no protein is made Results in full onset of effects
- 10. From the father: Can only pass chromosome on to daughter Will only cause premutation in daughter, even if he has the full mutation From the mother: Can pass chromosome to either son or daughter Can expand from premutation chromosome to fully mutated chromosome (chance of this occurring increases with each generation)
- 11. Women have 2 X chromosomes Only 1 is active in each cell because of X inactivation – it’s a coin toss and can differ between cells If they inherit 1 mutated X and 1 normal X, cells have a 50/50 chance of being affected Different ratios of affected to unaffected cells in the brain create varying degrees of Fragile X symptoms
- 12. Men have 1 X chromosome and 1 Y chromosome All cells use same X chromosome If mother passed on mutated X, all cells will show mutation If mother passed on premutated X, cells could show mutation if it becomes full mutation If mother passed on normal X, no cells will show mutation
- 13. There is no cure, only treatment. Research is actively being conducted. Educational options Therapeutic options Medication options
- 14. Parents, teachers, and psychologists can develop an Individualized Education Plan (IEP) Placement depends on severity of Fragile X Generally three options: Full inclusion in a regular classroom. Inclusion with "pull-out" services Full-time, special education classroom
- 15. Speech-language therapists Improve pronunciation, slow down speech, etc Occupational therapists Help with tasks, daily activities, and career choice Physical therapists Motor control Behavioral therapists Identify distressing situations and help to prevent and cope with them
- 16. Treat symptoms Some have serious risks Examples: Ritalin for ADD Prozac for aggression Melatonin for sleep disturbances Lithium carbonate for mood instability
- 17. Caused by FMR1 gene mutation No artificial protein to replace FMR1 protein Most commonly inherited cause of mental retardation