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Test 3: Down syndrome

  1. What is Down syndrome?
    • A condition caused by insect bites and resulting in generalised oedema.
    • A common diagnosis in Mongolia (China).
    • A recognisable pattern of clinical features and malformations.
    • A syndrome diagnosed by examining the urine.
  2. How common is Down syndrome at birth (birth prevalence) in South Africa?
    • 1 per 1000 live births.
    • 2 per 1000 live births.
    • 5 per 1000 live births.
    • 10 per 1000 live births.
  3. In South Africa Down syndrome births are commoner:
    • In summer.
    • In winter.
    • In women younger than 35 years.
    • In women 35 years or older.
  4. Why is the diagnosis of Down syndrome often missed in South Africa?
    • Because the diagnosis is difficult to make in children.
    • Due to a lack of awareness by parents and health-care workers.
    • Because most infants with Down syndrome die of infection during the first days of life.
    • Because most infants are born at home and do not attend clinics.
  5. In Down syndrome there is extra material from which chromosome?
    • 15
    • 18
    • 21
    • 22
  6. What is the most common cause of Down syndrome?
    • Trisomy.
    • Translocation.
    • Mosaicism.
    • A single gene defect.
  7. What is a typical facial feature of Down syndrome?
    • Downward slanting eyes.
    • A big nose.
    • A large head.
    • A relatively large tongue.
  8. The hands of children with Down syndrome:
    • Usually have an extra finger.
    • Usually have a single palmar crease.
    • Are long and thin.
    • Usually have very small nails.
  9. The feet of infant with Down syndrome:
    • Often have one or two toes missing.
    • Often have club feet.
    • Often have a wide gap between the big and second toe.
    • Usually have long toes.
  10. Infants with Down syndrome typically have:
    • Hypotonia (floppiness).
    • Increased tone.
    • A very good Moro reflex.
    • Convulsions.
  11. What is the pattern of growth in children with Down syndrome during the first months of life?
    • Commonly obese.
    • Usually thin and wasted.
    • Slow growth.
    • Rapid growth.
  12. When should the parents of an infant with Down syndrome be told the diagnosis?
    • It is best if they are left to find out for themselves that the infant is not normal.
    • As soon as possible.
    • When the child gets to school-going age.
    • When the child reaches puberty.
  13. Children with Down syndrome often have:
    • Cerebral palsy with increased muscle tone.
    • Normal intelligence.
    • Visual problems.
    • Paralysis.
  14. What is a common complication of Down syndrome?
    • Congenital heart defects.
    • Congenital kidney failure.
    • Congenital diaphragmatic hernia.
    • Congenital deafness.
  15. Children with Down syndrome are at an increased risk of:
    • Arthritis.
    • Anaemia.
    • Recurrent infection.
    • Bleeding.
  16. What is the life expectancy of individuals with Down syndrome in South Africa?
    • The same as normal people.
    • More than half die before two years of age.
    • At least 25% die on the first day of life.
    • Most are stillborn.
  17. How can children with Down syndrome be helped to reach their full potential?
    • They should be placed in a special institution as soon as they are one year old.
    • They should not be stimulated as this is too stressful for them.
    • They should be stimulated by their parents at home and receive early neurodevelopmental therapy.
    • Neurodevelopmental therapy should only be started when they are ready for school.
  18. How can a pregnant woman be screened for a fetus with Down syndrome?
    • X-ray of the mother’s abdomen to look for duodenal atresia in the fetus.
    • Ultrasound examination at 12 weeks to look for increased skin thickness over the back of the fetal neck.
    • A blood test at 25 weeks of gestation
    • Measurement of symphysis-fundal height to look for abnormal fetal growth.
  19. How can the diagnosis of Down syndrome be confirmed during pregnancy?
    • Chromosomal analysis on a sample of amniotic fluid.
    • Triple test on the mother’s blood at 20 weeks.
    • Ultrasound examination for ventricular septal defect (VSD).
    • Chorionic villous biopsy to determine whether the fetus has hypothyroidism.
  20. What is the risk of a 25-year-old woman having a second child with Down syndrome due to non-disjunction?
    • 1%.
    • 15%.
    • 25%.
    • 50%.