HD2b

Question 1

What are normal ages for the following reflexes? [4]

• Rooting
• Moro
• Tonic reflex: fencing
• Grasp reflex
• Stepping reflex

Answer 1

• Rooting (4 months)
• Moro (2 months)
• Tonic reflex: fencing (5-7 months)
• Grasp reflex (5-6 months)
• Stepping reflex

Question 2

Why should a DS person not do contact sports? [1]

Answer 2

Increased risk of atlanto-axial subluxation

Question 3

Describe normal milestones for

o Smile
o Eye contact
o Precision grip
o Walking
o Feeds self
o Speaking (few words)

Answer 3

o Smile: < 8 wks
o Eye contact: < 3 months
o Precision grip: 9 months (requires cerebellum)
o Walking: 12-18 months
o Feeds self: 18 months
o Speaking (few words): 1.5-2 years

Question 4

Describe the three types of DS [3]

Answer 4

o Trisomy 21 (most common): 3 separate copies
o Translocation: extra chromosome 21 bound to another -> more easily inherited
o Mosaic: Some cells 3 copies, other 2 copies

Question 5

State 5 complications of DS [5]

Answer 5

o Congenital heart defects (50%) -> mostly AVSD
o GI defects:** obstruction, GORD, celiac, duodenal atresia**
o Weak immune system -> infections
o Sleep apnoea
o Obesity
o Atlantoaxial instability (shouldn’t do contact sports)
o Dementia
o Visual problems: cataracts,…
o Hypothyroidism
o Hearing loss (often structural problem)
o Glue ear: Fluid in eustachian tube