Rett syndrome


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Rett syndrome

  1. 1. Rett Syndrome By: Kyle Miyahara, and G Singh
  2. 2. What is Rett Syndrome? <ul><li>Rett syndrome is a neurodevelopment disorder normally affecting girls </li></ul><ul><li>Slow development </li></ul><ul><li>Distinctive hand movements </li></ul><ul><li>Slowed brain and head growth </li></ul><ul><li>Seizures </li></ul>
  3. 3. Stage 1 <ul><li>Early onset </li></ul><ul><li>usually begins between 6 and 18 months. Infants show less eye contact and delay in motor skills </li></ul>
  4. 4. Stage 2 <ul><li>Rapid destructive </li></ul><ul><li>Rapid destructive, begins at ages 1 and 4, and child will begin a rapid loss of hand skills and speaking with slowed head growth </li></ul>
  5. 5. Stage 3 <ul><li>Plateau stage </li></ul><ul><li>Begins at ages 2 and 10 where Apraxia occurs but improvement in their behavior happens </li></ul>
  6. 6. Stage 4 <ul><li>Late motor </li></ul><ul><li>Lasts for years to decades will reduce mobility with curvature in spine and muscle weakness which can cause someone who was walking to not be able to walk </li></ul>
  7. 7. Founder of Rett Syndrome <ul><li>Identified by Dr. Andreas Rett </li></ul><ul><li>Austrian physician who first described it in a article in 1966. </li></ul>
  8. 8. Symptoms <ul><li>Loss of muscle tone in early infancy </li></ul><ul><li>Difficulty feeding </li></ul><ul><li>Crawling and walking </li></ul><ul><li>As they grow up a child will lose their use of hands and the ability to speak </li></ul>
  9. 9. Main cause of Rett syndrome <ul><li>The main feature in which causes Rett syndrome is Apraxia </li></ul><ul><li>Apraxia is the inability to perform motor functions </li></ul><ul><li>It interferes with every movement in the body </li></ul>
  10. 10. Recessive or Dominant? <ul><li>Rett syndrome is neither a recessive or dominant trait </li></ul><ul><li>It is a genetic disorder that occurs when there is a mutation in the MECP2 gene on the X chromosome </li></ul>
  11. 11. What is a MECP2 gene? <ul><li>Provides instructions for making protein for normal brain development </li></ul><ul><li>Forms connections between nerve cells, where cell to cell communication occurs </li></ul><ul><li>Rett syndrome disturbs the gene process in creating building blocks for the brain </li></ul>
  12. 12. Odds <ul><li>Chances of having Rett syndrome are random </li></ul><ul><li>An estimated 1 in every 10,000-15,000 females are affected. </li></ul><ul><li>Odds of having more than 1 child with Rett syndrome is less than 1 percent </li></ul>
  13. 13. Cure <ul><li>There is no cure for Rett syndrome </li></ul>
  14. 14. Treatments <ul><li>They have treatments called symptomatic </li></ul><ul><li>Occupational therapy help children develop skills needed for performing self directed activities such as dressing, feeding, ect. </li></ul><ul><li>“ International Rett syndrome foundation” located in Cincinnati, Ohio </li></ul><ul><li>http:// </li></ul>
  15. 15. Outlook <ul><li>People diagnosed usually live well into their middle ages </li></ul><ul><li>But life expectancy is estimated to not go beyond the age of 40 </li></ul>
  16. 16. Sources <ul><li>&quot;Rett Syndrome Fact Sheet.&quot; . National Institutes of Health, 03-05-2010. Web. 21 Mar 2010. </li></ul><ul><li>&quot;Rett Syndrome .&quot; . Genetics home reference, 04-00-06. Web. 21 Mar 2010. <>. </li></ul><ul><li>Dictionary </li></ul><ul><li>Linberg, Barbo. Understandig Rett Syndrome . Hogrefe & Huber Pub, 1994. Print. </li></ul>