Neurology/Developmental (Alice) (6%) Flashcards
physical characteristics of Down syndrome
-microcephaly
-epicanthal folds
-broad nasal bridge
-large tongue
-small ears
-hypertelorism
-brushfield spots
-single palmar crease on each hand
-flat occiput
-shortened extremities
-short neck
-harsh systolic murmur
Down syndrome is due to a chromosome _ d.-
trisomy 21
mc chromosomal d.o and cause of mental retardation
down syndrome
rf for down syndrome
advanced maternal age
3 comorbidities associated w. down syndrome
ALL
early onset alzheimer’s
atlantoaxial instability
what does this make you think of
large gap btw first hallux -> down syndrome
mc complications for pt’s w. down syndrome (5)
atrial septal defect
sterility in males
duodenal atresia
ALL
mental retardation/early alzheimer’s
dx for down syndrome
prenatal:
-US: nuchal translucency and hypoplastic nasal bone 11-14 weeks
-chorionic villus sampling
-amniocentesis at 15 weeks gestation
-quadruple screen
postnatal:
-FISH karyotyping (fluorescence in situ hybridization)
-clinical via dysmorphic features
t/f: amniocentesis is less risk to the child chan chorionic villus sampling
t!
testing for down syndrome is indicated for mothers >
35 yo
chorionic villus sampling (CVS) involves a _ sample
and is usually performed at _ weeks gestation
placental tissue
10-12 weeks gestation
what is a quadruple screen
AFP
hCG
estriol
inhibin-A
when is a quadruple screen performed
15-22 weeks gestation
quadruple screen findings of down syndrome
increased: bHCG, inhibin A
decreased: unconjugated estriol (uE3), AFP
febrile sz is a convulsion associated w. a temp >
38 C (100.4 F)
mc seizure btw 6 mo and 5 yo
febrile sz
5 rf for febrile sz
fever
age
viral infxn
fam hx
recent immunizations
2 meds used to terminate status epilepticus
benzo
phenytoin
t/f: febrile sz rarely develops into epilepsy
t!
t/f: one febrile sz increases risk for recurrance
t!
3 neonatal reflexes
moro
grasp
visual tracking
when should an infant be able to hold up his head
2 mos
what is the moro reflex
response to sudden loss of support:
spread arms
pull arms back in tight to chest
cries
what is the grasp reflex
stroking of the palm of baby’s hand causes baby to close fingers in a grasp
when does the moro reflex disappear
3 mos
when can an infant roll from prone to supine:
sit up straight:
crawl:
stand:
walk:
sit up straight: 6 mos
crawl: 9 mos
stand: 12 mos
walk: 15 mos
when doe a child develop conscience (super-ego) and have same-sex friends
school age (6-11 yo)
when does abstract reasoning, personality, and development of opposite sex friendships develop
girls: 11 yo
boys: 13 yo
when does language occur:
crying:
cooing:
orientation to voice:
babbling:
mama/dada:
several words:
names objects:
2 word sentences:
3 word sentences:
cooing: 2 mos
orientation to voice: 4 mos
babbling: 6 mos
mama/dada nonspecific vs specific: 9 mos/12 mos
several words: 15 mos
names objects: 18 mos
2 word sentences: 24 mos
3 word sentences: 36 mos
when can a baby smile and laugh
smile: 2 mos
laugh: 4 mos
when can a baby respond to its name
9 mos
when can a baby respond to 2 step commands
24 mos
meningitis triad
HA
fever
nuchal rigidity
how to differentiate meningitis vs encephalopathy
meningitis: no mental status change