Neurology/Developmental (Alice) (6%) Flashcards

1
Q

physical characteristics of Down syndrome

A

-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

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2
Q

Down syndrome is due to a chromosome _ d.-

A

trisomy 21

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3
Q

mc chromosomal d.o and cause of mental retardation

A

down syndrome

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4
Q

rf for down syndrome

A

advanced maternal age

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5
Q

3 comorbidities associated w. down syndrome

A

ALL
early onset alzheimer’s
atlantoaxial instability

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6
Q

what does this make you think of

A

large gap btw first hallux -> down syndrome

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7
Q

mc complications for pt’s w. down syndrome (5)

A

atrial septal defect
sterility in males
duodenal atresia
ALL
mental retardation/early alzheimer’s

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8
Q

dx for down syndrome

A

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

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9
Q

t/f: amniocentesis is less risk to the child chan chorionic villus sampling

A

t!

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10
Q

testing for down syndrome is indicated for mothers >

A

35 yo

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11
Q

chorionic villus sampling (CVS) involves a _ sample

and is usually performed at _ weeks gestation

A

placental tissue
10-12 weeks gestation

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12
Q

what is a quadruple screen

A

AFP
hCG
estriol
inhibin-A

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13
Q

when is a quadruple screen performed

A

15-22 weeks gestation

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14
Q

quadruple screen findings of down syndrome

A

increased: bHCG, inhibin A
decreased: unconjugated estriol (uE3), AFP

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15
Q

febrile sz is a convulsion associated w. a temp >

A

38 C (100.4 F)

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16
Q

mc seizure btw 6 mo and 5 yo

A

febrile sz

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17
Q

5 rf for febrile sz

A

fever
age
viral infxn
fam hx
recent immunizations

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18
Q

2 meds used to terminate status epilepticus

A

benzo
phenytoin

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19
Q

t/f: febrile sz rarely develops into epilepsy

A

t!

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20
Q

t/f: one febrile sz increases risk for recurrance

A

t!

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21
Q

3 neonatal reflexes

A

moro
grasp
visual tracking

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22
Q

when should an infant be able to hold up his head

A

2 mos

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23
Q

what is the moro reflex

A

response to sudden loss of support:
spread arms
pull arms back in tight to chest
cries

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24
Q

what is the grasp reflex

A

stroking of the palm of baby’s hand causes baby to close fingers in a grasp

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25
Q

when does the moro reflex disappear

A

3 mos

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26
Q

when can an infant roll from prone to supine:

sit up straight:
crawl:
stand:
walk:

A

sit up straight: 6 mos
crawl: 9 mos
stand: 12 mos
walk: 15 mos

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27
Q

when doe a child develop conscience (super-ego) and have same-sex friends

A

school age (6-11 yo)

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28
Q

when does abstract reasoning, personality, and development of opposite sex friendships develop

A

girls: 11 yo
boys: 13 yo

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29
Q

when does language occur:

crying:
cooing:
orientation to voice:
babbling:
mama/dada:
several words:
names objects:
2 word sentences:
3 word sentences:

A

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

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30
Q

when can a baby smile and laugh

A

smile: 2 mos
laugh: 4 mos

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31
Q

when can a baby respond to its name

A

9 mos

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32
Q

when can a baby respond to 2 step commands

A

24 mos

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33
Q

meningitis triad

A

HA
fever
nuchal rigidity

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34
Q

how to differentiate meningitis vs encephalopathy

A

meningitis: no mental status change

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35
Q

suspect meningitis due to n. meningitidis if what sx is present

A

petechiae

36
Q

2 mcc of neonatal meningitis

A

e.coli
GBS (s. agalactiae)

37
Q

2 mcc of meningitis in gen pop

A
  1. step pneumo
    n meningitidis
38
Q

mc viral cause of meningitis

A
  1. enteroviruses

also: HSV, HIV, mumps, west nile

39
Q

fungal etiology of meningitis

A

cruptococcus neoformans

40
Q

dx for meningitis

A

LP:
-increased: opening pressure, neutrophils, protein
-decreased: glucose

41
Q

CSF findings of meningitis: bacterial vs viral

A

bacterial: increased pro, decreased glucose
viral: none specific, +/- increased lymphocytes

42
Q

must do prior to LP

A

check for ICP:
papilledema
CT if unsure

43
Q

5 rf for ICP

A

> 60 yo
immunocompromised
AMS
focal neuro finding
papilledema

44
Q

tx for meningitis

A

dexamethasone
PLUS
ampicillin PLUS ceftriaxone PLUS vanco

45
Q

abx options for household contacts of meningitis pt (3)

A

rifampin
cipro
ceftriaxone

46
Q

4 pathogens associated w. aseptic meningitis

A

enterovirus
HSV
TB
fungus

47
Q

tx for aseptic meningitis

A

symptomatic
HSV: IV acyclovir

48
Q

sz d.o to know

A

focal
generalized
status epilepticus

49
Q

2 types of focal sz

A

simple/retained awareness
complex/altered consciousness

50
Q

complex sz are characterized and differentiated from absence sz by

A

postictal state (confusion/memory loss)

51
Q

tx for focal sz (2)

A

phenytoin
carbamazepine

52
Q

6 types of generalized sz

A

absence (petit mal)
tonic
clonic
tonic-clonic (grand mal)
atonic (drop attacks)
myoclonic

53
Q

pathophys of generalized sz’s

A

-widespread sz activity in left AND right hemispheres of brain
-start midbrain, spread to cortices

54
Q

-brief impairment of consciousness w. abrupt beginning and end
-pt has no recollection, witnesses commonly miss them

A

absence sz

55
Q

-bilaterally symmetric sz w.o focal onset
-begins w. sudden LOC and a fall to the ground

A

tonic-clonic (grand mal)

56
Q

3 phases of tonic clonic sz

A

tonic: stiff/rigid x 10-60 sec
clonic: generalized convulsions/limb jerking
postictal: confused state

57
Q

atonic sz mimics _
and involves _

A

syncope
sudden loss of muscle tone

58
Q

loss of control of bodily fxn
jerking
+/- LOC
confusion

A

clonic sz

59
Q

extreme rigidity
immediate LOC
no convulsions

A

tonic sz

60
Q

muscle jerking w.o tonic phase

A

myoclonic sz

61
Q

myoclonic sz mc occur during what time of day

A

morning

62
Q

unclassified sz types (3)

A

febrile
infantile
psychogenic non-epileptic (PNES)

63
Q

type of epilepsy that does not involve focal or generalized sz

A

infantile spasm

64
Q

PNES may mimic _ sz

A

epileptic

65
Q

what is status epilepticus

A

single epileptic sz lasting > 5 min
OR
>/= 2 sz w.in 5 min w. no return to normal in btw

66
Q

classifications of status epilepticus (2)

A

confulsive
nonconvulsive

67
Q

nonconvulsive status epilepticus includes (2)

A

complex partial epilepticus
abcence status epilepticus

68
Q

tx for status epilepticus

A
  1. lorazepam
    followed by
  2. phenytoin
69
Q

teething generally occurs in what age range

A

6-24 mos

70
Q

in what order do teeth appear

A
  1. lower central incisors
  2. upper central incisors
71
Q

5 classic signs of teething

A

excessive drooling
chewing on objects
irritability
sore/tender gums
slight increase in temp (no fever)

72
Q

when should first dental visit occur

A

at or near 1st year

73
Q

presentation of turner syndrome (6)

A

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

74
Q

turner syndrome is a genetic d.o caused by a missing _ chromosome in females

A

X

45XO

75
Q

mcc of primary amenorrhea

A

turner syndrome

76
Q

t/f: most turner syndrome pt’s are infertile

A

t!

77
Q

amenorrhea w. a present uterus should make you think

A

turner syndrome

78
Q

CV defect associated w. turner syndrome

A

coarctation of aorta

79
Q

4 complications of turner syndrome

A

CV (HTN)
renal
thyroid dysfxn
GI bleeding

80
Q

dx for turner syndrome (3)

A

anti-mullerian hormone
karyotyping: 45XO
endoscopy: GI telangiectasias

81
Q

tx for turner syndrome (2)

A

growth hormones
sex hormones

82
Q

amniocentesis should not be performed prior to _ weeks gestation

A

14

83
Q

when is a quadruple screen performed

A

second trimester

84
Q

3 hallmark physical characteristics of down syndrome

A

flat nasal bridge
clinodactylyl
small mouth w. protruding tongue

85
Q

what is this showing

A

clinodactylyl -> down syndrome

86
Q

what is this showing

A

double bubble:
duodenal atresia