Neurology/Developmental Flashcards by Alice Richards

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

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Down syndrome is due to a chromosome _ d.-

trisomy 21

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mc chromosomal d.o and cause of mental retardation

down syndrome

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rf for down syndrome

advanced maternal age

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3 comorbidities associated w. down syndrome

ALL
early onset alzheimer’s
atlantoaxial instability

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what does this make you think of

large gap btw first hallux -> down syndrome

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

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

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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

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

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testing for down syndrome is indicated for mothers >

35 yo

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chorionic villus sampling (CVS) involves a _ sample

and is usually performed at _ weeks gestation

placental tissue
10-12 weeks gestation

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what is a quadruple screen

AFP
hCG
estriol
inhibin-A

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when is a quadruple screen performed

15-22 weeks gestation

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quadruple screen findings of down syndrome

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

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febrile sz is a convulsion associated w. a temp >

38 C (100.4 F)

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mc seizure btw 6 mo and 5 yo

febrile sz

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5 rf for febrile sz

fever
age
viral infxn
fam hx
recent immunizations

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2 meds used to terminate status epilepticus

benzo
phenytoin

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t/f: febrile sz rarely develops into epilepsy

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t/f: one febrile sz increases risk for recurrance

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3 neonatal reflexes

moro
grasp
visual tracking

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when should an infant be able to hold up his head

2 mos

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what is the moro reflex

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

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what is the grasp reflex

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

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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

1. **step pneumo** n meningitidis

mc viral cause of meningitis

1. 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

1. lorazepam followed by 2. phenytoin

teething generally occurs in what age range

6-24 mos

in what order do teeth appear

1. lower central incisors 2. 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

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

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