Down's Syndrome

Question 1

What makes trisomy 21 more common?

Answer 1

Increasing maternal age

Question 2

What is this a presentation of?

1. Prominent epicanthic folds, almond shaped eyes.
2. Flat nasal bridge and occiput
3. Small, low set ears, large tongue
4. Single palmar crease
5. Sandal gap
6. Babies are hypotonic and slow to feed
7. Developmental and growth delay

Answer 2

Trisomy 21 Down’s syndrome

Question 3

How is Down’s syndrome diagnosed?

Answer 3

1. Antenatal screening
2. Diagnostic amniocentesis/CVS
3. Clinical suspicion postnatally confirmed by blood karyotype.

Question 4

What is the management for Down’s syndrome?

Answer 4

1. Manage associated conditions
2. Echos throughout childhood
3. Regular hearing and vision tests
4. Regular coeliac and hypothyroidism screening

Question 5

What are the effect of Down’s syndrome later in life?

Answer 5

1. Nearly all males infertile, females subfertile.
2. Mild-moderate learning difficulties.
3. Increased ADHD, autism.
4. Half will develop Alzheimer’s in their 50s.
5. Life expectancy reduced.
6. Social care - respite, DLA, home adaptations

Question 6

What CVS conditions are associated with Down’s syndrome?

Answer 6

1. AVSD (50% with AVSD have Down’s)

2. VSD

Question 7

What GI conditions are associated with Down’s syndrome?

Answer 7

1. Hirschsprung’s disease

2. Duodenal atresia

Question 8

What immune conditions are associated with Down’s syndrome?

Answer 8

Autoimmunity (hypothyroidism/DM/coeliac)

Question 9

What cancer, eye, and ear conditions are associated with Down’s syndrome?

Answer 9

1. ALL
2. Long-sightedness, congenital cataracts
3. Otitis media and effusion (glue ear)