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Fragile x syndrome


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Fragile x syndrome

  1. 1. CHARACTERISTICS OF FRAGILE X SYNDROME FOR MALES <ul><li>prominent or long ears </li></ul><ul><li>a long face </li></ul><ul><li>delayed speech </li></ul><ul><li>large testes (macroorchidism) </li></ul><ul><li>Hyperactivity </li></ul><ul><li>tactile defensiveness </li></ul><ul><li>gross motor delays </li></ul><ul><li>autistic-like behaviors. </li></ul>
  2. 2. CHARACTERISTICS OF FRAGILE X FOR FEMALES <ul><li>Only about half of all females who carry the genetic mutation have symptoms </li></ul><ul><li>Of those, half are of normal intelligence, and only one-fourth have an IQ under seventy </li></ul><ul><li>Few fragile X girls have autistic symptoms, although they tend to be shy and quiet. </li></ul>
  3. 3. Causes of Fragile X Syndrome <ul><li>The gene responsible for fragile X is called the FMR1 (fragile X mental retardation 1) gene. </li></ul><ul><li>The full mutation causes the gene to shut down or methylate a region of the FMR -1 gene. </li></ul><ul><li>Normally, the FMR-1 gene produces a protein called FMRP. When the gene is turned off, the individual does not make fragile X mental retardation protein (FMRP) . The lack of this specific protein causes fragile X syndrome. </li></ul>
  4. 4. <ul><li>3,500 to 8,900 males is affected by the full mutation of the FMR1 gene </li></ul><ul><li>one in 1,000 males has the premutation form of the FMR1 gene. </li></ul><ul><li>one in 250 to 500 females in the general population has the premutation </li></ul><ul><li>one in 4,000 females is affected by the full mutation. </li></ul>
  5. 5. <ul><li>Males are more commonly affected by this genetic disorder because it is a sex-linked trait. </li></ul>
  6. 6. <ul><li>approximately 1 per 8,000 females suffer from fragile X syndrome </li></ul><ul><li>approx 1 in 16,000 or 0.01% or 17,000 people in USA </li></ul><ul><li>about 1 in 1500 males. </li></ul><ul><li>approx 1 in 3,000 or 0.03% or 90,666 people in USA </li></ul><ul><li>90,666 per year, 7,555 per month, 1,743 per week, 248 per day, 10 per hour </li></ul>Occurance Rate of Fragile X
  7. 7. Cures and Treatments for Fragile X <ul><li>There is no definitive, single treatment for Fragile X. </li></ul><ul><li>Children with Fragile X who receive appropriate education, behavioral or physical therapy, and medication have the best chance of using their individual capabilities and skills. </li></ul><ul><li>One important factor in developing a child’s long-term potential is early intervention. The sooner a child begins to get help, the more opportunity for learning. </li></ul>