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
suspect meningitis due to n. meningitidis if what sx is present
petechiae
2 mcc of neonatal meningitis
e.coli
GBS (s. agalactiae)
2 mcc of meningitis in gen pop
-
step pneumo
n meningitidis
mc viral cause of meningitis
- enteroviruses
also: HSV, HIV, mumps, west nile
fungal etiology of meningitis
cruptococcus neoformans
dx for meningitis
LP:
-increased: opening pressure, neutrophils, protein
-decreased: glucose
CSF findings of meningitis: bacterial vs viral
bacterial: increased pro, decreased glucose
viral: none specific, +/- increased lymphocytes
must do prior to LP
check for ICP:
papilledema
CT if unsure
5 rf for ICP
> 60 yo
immunocompromised
AMS
focal neuro finding
papilledema
tx for meningitis
dexamethasone
PLUS
ampicillin PLUS ceftriaxone PLUS vanco
abx options for household contacts of meningitis pt (3)
rifampin
cipro
ceftriaxone
4 pathogens associated w. aseptic meningitis
enterovirus
HSV
TB
fungus
tx for aseptic meningitis
symptomatic
HSV: IV acyclovir
sz d.o to know
focal
generalized
status epilepticus
2 types of focal sz
simple/retained awareness
complex/altered consciousness
complex sz are characterized and differentiated from absence sz by
postictal state (confusion/memory loss)
tx for focal sz (2)
phenytoin
carbamazepine
6 types of generalized sz
absence (petit mal)
tonic
clonic
tonic-clonic (grand mal)
atonic (drop attacks)
myoclonic
pathophys of generalized sz’s
-widespread sz activity in left AND right hemispheres of brain
-start midbrain, spread to cortices
-brief impairment of consciousness w. abrupt beginning and end
-pt has no recollection, witnesses commonly miss them
absence sz
-bilaterally symmetric sz w.o focal onset
-begins w. sudden LOC and a fall to the ground
tonic-clonic (grand mal)
3 phases of tonic clonic sz
tonic: stiff/rigid x 10-60 sec
clonic: generalized convulsions/limb jerking
postictal: confused state
atonic sz mimics _
and involves _
syncope
sudden loss of muscle tone
loss of control of bodily fxn
jerking
+/- LOC
confusion
clonic sz
extreme rigidity
immediate LOC
no convulsions
tonic sz
muscle jerking w.o tonic phase
myoclonic sz
myoclonic sz mc occur during what time of day
morning
unclassified sz types (3)
febrile
infantile
psychogenic non-epileptic (PNES)
type of epilepsy that does not involve focal or generalized sz
infantile spasm
PNES may mimic _ sz
epileptic
what is status epilepticus
single epileptic sz lasting > 5 min
OR
>/= 2 sz w.in 5 min w. no return to normal in btw
classifications of status epilepticus (2)
confulsive
nonconvulsive
nonconvulsive status epilepticus includes (2)
complex partial epilepticus
abcence status epilepticus
tx for status epilepticus
- lorazepam
followed by - phenytoin
teething generally occurs in what age range
6-24 mos
in what order do teeth appear
- lower central incisors
- upper central incisors
5 classic signs of teething
excessive drooling
chewing on objects
irritability
sore/tender gums
slight increase in temp (no fever)
when should first dental visit occur
at or near 1st year
presentation of turner syndrome (6)
delayed onset of menstruation
short neck
wide torso/short stature
webbing skin btw neck and shoulders
streak ovaries
congenital heart/renal defects
low set ears
low hairline
turner syndrome is a genetic d.o caused by a missing _ chromosome in females
X
45XO
mcc of primary amenorrhea
turner syndrome
t/f: most turner syndrome pt’s are infertile
t!
amenorrhea w. a present uterus should make you think
turner syndrome
CV defect associated w. turner syndrome
coarctation of aorta
4 complications of turner syndrome
CV (HTN)
renal
thyroid dysfxn
GI bleeding
dx for turner syndrome (3)
anti-mullerian hormone
karyotyping: 45XO
endoscopy: GI telangiectasias
tx for turner syndrome (2)
growth hormones
sex hormones
amniocentesis should not be performed prior to _ weeks gestation
14
when is a quadruple screen performed
second trimester
3 hallmark physical characteristics of down syndrome
flat nasal bridge
clinodactylyl
small mouth w. protruding tongue
what is this showing
clinodactylyl -> down syndrome
what is this showing
double bubble:
duodenal atresia
