T21

Question 1

Issues T21

Answer 1

Cardiac
Immune dysfunction
Haematological
ENT
GIT
Ophthal
Endo
Sexual dev
Development and ID
Ortho
Increased sz risk

Question 2

Cardiac T21

Answer 2

• 30-50% have cardiac disease
• AVSD! VSD, PDA, ASD
• around 50% of teens develop MV prolapse

Question 3

Immune dysfunction T21

Answer 3

Increased susceptibility to infections
- vax
- exposures
- recognise early
- invx: FBE, blood film, total serum IgG, lymphocyte subsets
- refer to immuno

Question 4

Haem T21

Answer 4

Increased risk leukaemia
10% transient myeloproliferative disorder (neonates, regressed by 2-3 months)
20% will develop AML by age 5

FBC and film - 3 monthly until 3, 6 monthly until 6

Question 5

ENT T21

Answer 5

Recurrent OM
Morphology of head and neck predispose
Conductive hearing loss - dysmoph
OSA - T+As
Grommets

Question 6

GIT T21

Answer 6

CD screen - TTG and total serum IgA
GIT atresias
Hirschsprungs

Question 7

Autoimmune T21

Answer 7

Hypothyroid
CD

Question 8

Endo T21

Answer 8

Hypothyroid
Short stature
Obesity
Boys infertile

Question 9

Head neck thing T21

Answer 9

Atlantoaxial instability
Patients with symptoms suggestive of cord compression
Discuss c-spine positioning prior to GA
Age 3+ neutral c-spine XR to asses prior to GA