down's syndrome

Question 1

3 hour old baby boy born at term. midwife thinks child may have Down’s syndrome.

(a) what neurological sign is present in almost all newborn infants with Down’s syndrome?

Answer 1

hypotonia

Question 2

(b) the baby’s mother is in the room. how should the dx be given? give 5 points

Answer 2

1. by a senior clinician with a nurse present to support the mother
2. in a quiet / calm area suited to the discussion
3. use of a warning shot without the use of directly negative statement
4. over an adequate amount of time to facilitate discussion
5. with a detailed description of the condition and the impact it will have (if desired by the mother)

Question 3

(c) you decide to confirm the dx. what is the most likely karyotype?

Answer 3

trisomy 21

Question 4

(d) what type of karyotype would significantly increase the risk of his parents having another baby with Down’s syndrome?

Answer 4

• 21:21 translocation (ALL children will be affected)
• Robertsonian

Question 5

CVS exam at the time of birth was normal. 5 weeks later the baby, James, is taken to see the GP because he has not been feeding well. O/E: GP hears a loud pansystolic murmur but noticed that James is not cyanosed and all his peripheral pulses are palpable

(e) what cardiac lesion is most likely to underlie his signs and sx? give 2 of the most likely cardiac lesions.

Answer 5

1. atrioventricular septal defect
2. ventricular septal defect