Angelman Syndrome – Board-Style Questions

What this deck covers

Angelman 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. The way she walks
2. Which group is hardest hit
3. The next pregnancy
4. One side is silent
5. The first test was normal
6. The tracing
7. Shaky hands
8. Awake at three each morning
9. Milk everywhere
10. Laughing again
11. Making himself understood
12. Fairer than her family
13. Always at the tap
14. Will he ever walk
15. Not quite the same
16. Soaking his shirts
17. Two copies from one parent
18. Looking a long way ahead

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: A scissoring walk with the legs crossing at each step she takes, Those with a missing segment of the maternal chromosome 15, There is no risk at all, since his mother is entirely healthy, The father’s copy is lost early in development in every tissue, A change within the gene, which a marking study cannot show, A normal tracing for a child of this age when she is drowsy, Repeated brief seizures needing another anticonvulsant medicine, He is deliberately waking in order to obtain their attention, A tongue that thrusts forward with a weak suck, common here, They are brief seizures and a further medicine should be added, Intensive speech therapy aimed solely at producing spoken words, A separate inherited condition affecting pigment throughout the whole body, A recognised fascination with water and mouthing seen here, He will almost certainly never walk and needs a wheelchair from now.

Clinical pearls from this deck

• Wide-based lurch with arms up: the classic gait.
• Losing the whole segment gives the most severe picture.
• Carrier mother: half her children inherit and are affected.
• Only the mother’s copy works in brain cells.
• Normal marking study, typical child: sequence the gene.
• Very large slow waves at the back: typical of the syndrome.

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.