Clinical Relevance: Week 1

Question 1

Physical presentation of Down syndrome

Answer 1

distinctive facial features

single, deep crease on the soles of feet and one or both hands

wide space between great and second toe

mild to moderate intellectual disabilities

numerous resp infections (colds, bronchitis, pneumonia)

Question 2

Potential medical issues in Down syndrome

Answer 2

congenital heart disease - AVSD, VSD

GI abnormalities - duodenal atresia, Hirschsprung disease

MSK problems - low tone, flexible joints

Endo disorders - thyroid, growth hormone

Epilepsy

Visual problems - refractive error

Hearing loss

Speech disorders

Sleep disorders - OSA

Feeding disorders

Developmental disabilities (learning disabilities, intellectual disabilities, autism)

Question 3

What screening tests do all infants have?

Answer 3

newborn infant physical examination (NIPE)
hearing screening
newborn blood spot test

Question 4

Define shock

Answer 4

inadequate perfusion of vital organs

Question 5

How do you use premature growth charts?

Answer 5

plot for gestation up to term
if premature, plot from birth gestation up to 40 weeks then start normal growth chart

for term newborn (>37 weeks) plot at term line, not at actual gestation