Down Syndrome – Board-Style Questions

What this deck covers

Down syndrome in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. Before he is born
2. Counting the pieces
3. Asking about the next baby
4. A gentler picture
5. Walking has changed
6. Before the sports day
7. Still noisy at night
8. After the blood count settles
9. Nothing has passed
10. Inhalers that do nothing
11. New glasses again
12. Skills slipping away
13. The heart rate falls
14. Feeds that take an hour
15. Lumps in the armpits
16. The centiles are climbing
17. A question about her future
18. Thirty years on

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: The test is unreliable after the age of thirty-five and must be repeated, An extra 21 fused to another chromosome, keeping the total at 46, The chance is the same as for any woman of her age and no more, Her family have supported her so well that the features have faded, Squeezing of the upper spinal cord by a joint that has slipped, Arrange films now, because they identify the children who will suffer harm, His symptoms are simply habit and will resolve without further action, No further blood tests, since the abnormal cells have gone completely, Absent nerve cells in the distal bowel, commoner in this syndrome, Poorly controlled asthma that needs a higher dose of inhaled steroid, Short sight progressing quickly, as it often does in adolescence, Early dementia, which is untreatable and explains all of her decline, Exaggerated slowing of the heart on gas induction in this syndrome, Stop breastfeeding and change him to a high energy formula this week.

Clinical pearls from this deck

• Screening DNA is placental: a high chance is not proof.
• Count of 46 with three doses of 21: it is attached.
• Carrier mother of a 14;21 join: about one in ten.
• Two cell lines: mosaicism, and a milder picture.
• Neck pain and brisk reflexes: the cord is at risk.
• No screening films: teach the warning symptoms.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all genetics and metabolic case decks · pediatric reference values.