Down Syndrome Child

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Down Syndrome Child

  1. 1. How to care about a Down’s Syndrome child? Charles University in Prague - 2nd Medical School Medical Biology 2006/2007 By: Leonor Madeira Madalena Fernandes
  2. 2. History <ul><li>1866, London – 1 st clinical description by John Langdon Down </li></ul><ul><li>- incorrectly known as mongolism </li></ul><ul><li>1959, Paris – recognized as a genetic disease by Lejeune & Jacobs </li></ul>
  3. 3. What is it? <ul><li>Autosomal trisomy </li></ul><ul><li>47 chromosomes </li></ul><ul><li>one extra copy of chromosome 21 </li></ul>
  4. 4. Types of Down’s Syndrome <ul><li>Trisomy 21 : extra chromosome is in pair 21 </li></ul><ul><li> 95% of the cases </li></ul><ul><li>Translocation : extra chromosome is in pair 14, 21 or 22 </li></ul><ul><li>3-4% of the cases </li></ul><ul><li>Mosaicism : cellular division after conception </li></ul><ul><li>1% of the cases </li></ul>
  5. 6. Recognition of the Down’s Syndrome Baby <ul><li>Face </li></ul><ul><ul><li>Flat occiput (brachycephaly) </li></ul></ul><ul><ul><li>Small nose with low nasal bridge </li></ul></ul><ul><ul><li>Almond shaped eyes </li></ul></ul><ul><ul><li>Small ears </li></ul></ul><ul><li>- Macroglossia </li></ul><ul><li> - Myopia </li></ul>
  6. 7. <ul><li>Hands and feet </li></ul><ul><ul><li>Single palmar crease </li></ul></ul><ul><ul><li>Incurved little finger with single crease </li></ul></ul><ul><ul><li>Wide space between 1 st and 2 nd toes </li></ul></ul>
  7. 8. <ul><li>Other characteristics </li></ul><ul><li>- Generalised hypotonia </li></ul><ul><li>- Undersized compared to children the same age </li></ul><ul><li>- Late development </li></ul><ul><li>- Cardiac and intestinal structural disorders </li></ul><ul><li>- Weak joints </li></ul><ul><li>- Sterile males </li></ul><ul><li>- Majority of females are fertile </li></ul><ul><li>- Certain degree of mental retardation </li></ul><ul><li>- High risk of leukaemia, Alzheimer's and hypothyroidism in old age. </li></ul>
  8. 9. A baby with DS…and now what? <ul><li>Abortion </li></ul><ul><li>Pre-natal diagnosis Carry on with the pregnancy </li></ul><ul><li>Post-natal diagnosis : “What do I do…?” </li></ul>
  9. 10. Telling the news <ul><li>Suspicion </li></ul><ul><li>- given by the doctor closest to the family </li></ul><ul><li>- use of clear language, speaking without rushing </li></ul><ul><li>- justify the reason of the request for the chromosomal test </li></ul><ul><li>- mention the name “Down’s Syndrome” </li></ul>
  10. 11. <ul><li>Confirmation </li></ul><ul><li>– inform immediately the family </li></ul><ul><li>- explain the Down’s Syndrome characteristics, stressing the positive aspects </li></ul><ul><li>- inform about the absence of medicinal treatment, showing ways of improving the child’s development </li></ul><ul><li>- avoid strict and long-term prognosis </li></ul>
  11. 12. Parents’ phases of adaptation <ul><li>Shock </li></ul><ul><li>Denial </li></ul><ul><li>Guilt </li></ul><ul><li>Anger </li></ul><ul><li>Adaptation </li></ul><ul><li>Back to normal life </li></ul>
  12. 13. Parents <ul><li>Accept the disability </li></ul><ul><li>Recognize the child’s capacities </li></ul><ul><li>Psychomotor stimulation (essential!!!) </li></ul><ul><li>Integration in the social life </li></ul><ul><li>Create relationships with families in the same situation </li></ul><ul><li>Be in touch with Down’s Syndrome support associations </li></ul><ul><li>Find orientation and treatment with professionals </li></ul>
  13. 15. References <ul><li>Books </li></ul><ul><li>Zitelli, B.J./Davis,H.W.; Atlas of Pediatric Physical Diagnosis, 3rd edition, 1997, Mosby-Wolfe. </li></ul><ul><li>Web </li></ul><ul><li>Google </li></ul><ul><li>Wikipedia </li></ul><ul><li>www.psicologia.com.pt </li></ul><ul><li>http:// www.malhatlantica.pt/ecaecm/Down.htm </li></ul>

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