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Fragile x syndrome

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Fragile x syndrome

  1. 1.  Fragile X Syndrome (FXS) is syndrome that closely associated with the gene FMR1 that results in an intellectual disabilities as well as affects physical characteristic of the person.
  2. 2.  FXS  FRAXA Syndrome  Fra(x) Syndrome  Marker X Syndrome  Martin-Bell Syndrome  X-linked Mental Retardation  Macroorchidism
  3. 3.  FMR1 gene on the X chromosome makes a protein called fragile x mental retardation protein (FMRP)  FMRP – protein required for normal neural development. Range of repetition of CGG Risk of having FXS ~6 – 44 Typical (normal) ~ 45 - 54 Intermediate ~ 55 – 200 Risk FXS (premutation/carrier) > 200 Full mutation (FXS)  FXS depends on repetition CGG in FMR1 gene where:
  4. 4. * FMRP : Fragile X Mental Retardation Protein
  5. 5. MALE XY chromosome (because there is only 1 X chromosome & easier to have FXS) FEMALE XX chromosome (since there are 2 X chromosomes & more common to be a carrier of FXS)
  6. 6.  Large testes (Macroorchidism)  Large ears  Long, narrow face  Soft skin  Poor eyesight  Large body size  Square chin  Frontal bossing
  7. 7. •Developmental delays •Mental retarded •Learning disabilities  Delayed speech  Rapid, repetitive speech  Poor conversation skills  Good verbal imitative skills
  8. 8.  Sleeping  Mouth stuffing  “picky” eaters  Socialization  Toilet training  Over sensitivity to sounds  Difficult to calm and comfort  Excessive mouthing and drooling  Playful (spinning objects, play with exclusive toy, or part of toy)
  9. 9.  Ear infections  Eye problems  Strabismus (inability to focus both eyes on an object)  Hyperopia (far-sightedness)  High blood pressure (can be treated with medication)
  10. 10.  Diagnosis of FXS is made through genetic testing to determine the number of CGG repeats in FMR1 (carrier testing) *Carrier testing: Carrier testing is used to identify who carry a copy of gene mutation or in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder.
  11. 11.  There is NO SPECIFIC TREATMENT for FXS  Therapy Treatments  Speech-language therapists - improve their pronunciation of words and sentences, slow down their speech, and use language more effectively.  Occupational therapists - help find ways to adjust tasks and conditions to match a person’s needs and abilities.  Physical therapists - design activities and exercises that help build motor control and improve posture and balance.  Behavioural therapists try to understand why someone with Fragile X acts out, and they create ways and strategies for avoiding or preventing these situations from occurring while also teaching better or more positive ways to respond to situations.  However they are some symptoms that can be controlled by a medication such as attention deficit, hyperactivity, anxiety, and aggression.
  12. 12.  Genetic counselling maybe helpful if a couple have family background of this syndrome and are planning to have a baby.
  13. 13.  http://www.docstoc.com/docs/105578229/Fragile-X- Syndrome---PowerPoint  http://www.fragilex.org/fragile-x-associated- disorders/fragile-x-syndrome  http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633  http://www.en.wikipedia.org/wiki/Fragile_X_syndrome  http://www.sciencemuseum.org.uk/WhoAmI/FindOutMore /Yourgenes/Whatcausesgeneticconditions/WhatisX- linkedinheritance/WhatisFragile-Xsyndrome.aspx  http://www.childrenhospital.org/az/Site1788/mainpageS 1788P1.html  http://simpsonfamilychallenge.blogspot.com/2012/09/th e-fragilest-x-planation-of-journey.html  http://www.whonamedit.com/synd.cfm/2071.html  http://www.springerreference.com/docs/html/chapterdb id/180078.html

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