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MSK Pharm > Peds > Flashcards

Peds Flashcards

1
Q

Screening for developmental dealsy

A
  • DDST-II (denver)

- M-CHAT-R- autism- 18 and 24 months

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2
Q

failed screen means what?

A

indication for a more thorough evaluation

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3
Q

autism- screening?

A
  • M-CHAT-R

- at 18 and 24 mos

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4
Q

autism- is it more common now?

A
  • MMR vaccine does NOT cause autism

- care providers are better at IDing the condition

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5
Q

developmental pearls- 6 months

A
  • babbles

- sits momentarily

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6
Q

developmental pearls- 9 months

A
  • momma/dadda (nonspecific)
  • pulls up
  • cruises
  • sits well w/o support
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7
Q

developmental pearls- 1 yr

A
  • separation anxiety
  • momma/dadda (specific)
  • stacks 3 cubes
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8
Q

developmental pearls- 2 yrs

A
  • 2 words together
  • 2/4 of language understood by strangers
  • interesting in potty training
  • 6 blocks
  • copy a line
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9
Q

developmental pearls- 3 yrs

A
  • tricycle
  • 3 numbers, 3 colors, 3 words together
  • playing in groups
  • 9 blocks
  • 3/4 speech understood by stragners
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10
Q

developmental pearls- 4 yrs

A
  • 4 body parts
  • 4/4 of speech understandable by strangers
  • past tense
  • copies a cros
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11
Q

developmental pearls- 6 yrs

A
  • ties shoes
  • skips
  • draws a person w 6 parts
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12
Q

pediatric myopathies

A
  • Muscular dystrophies (duchenne, becker)
  • mitochondrial disorders
  • glycogen storage disorder type 2 (pompe dz)
  • acquired- Juvenile dermatomyositis
  • statin induced myopathy
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13
Q

dystrophies- abnormalities in?

A

-dystrophin-assoc protein complex

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14
Q

Duchenne Muscular Dystrophy

A
  • most common severe childhood form!!
  • dystrophin gene mutations
  • X-linked recessive- 50% of sons have DMD; 50% of daughters are carriers- daughters risk for cardiomyopathy!!
  • frameshift mutations- absence of m dystrophin
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15
Q

DMD- pathogenesis

A
  • no dystrophin- lack m membrane stability- membrane tears

- heart, GI, CNS

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16
Q

MD- clinical aspects

A
  • lacks anti-gravity neck flexor strength
  • delayed walking, diff running
  • broad-based, waddling, lordotic gait
  • gowers sign (due to proximal m weakness)
  • calf and thigh m’s
  • toe-walking ( 6 yo)
  • limited hip flexion
  • independent ambulation (12-13 yo)- progressive scoliosis
  • compromised resp status
  • cardiomyopathy (15 yo)
  • intellectual impairment
17
Q

DMD- tx

A
  • lacks anti-gravity neck flexor strength
  • delayed walking, diff running
  • broad-based, waddling, lordotic gait
  • gowers sign (due to proximal m weakness)
  • calf and thigh m’s
  • toe-walking ( 6 yo)
  • limited hip flexion
  • independent ambulation (12-13 yo)- progressive scoliosis
  • compromised resp status
  • cardiomyopathy (15 yo)
  • intellectual impairment
18
Q

DMD- tx

A
  • steroids

- supportive care

19
Q

Gower manuever

A

see picture

20
Q

Becker muscular dystrophy

A
  • X-linked
  • mutation in dystrophin gene- in-frame mutation- abnormal/semi-fxnal dystrophin
  • less severe m weakness
  • proximal m weakness after 5 yo
  • indep walking after 16 yo
21
Q

congenital muscular dystrophies

A

-present at birth or early infancy

22
Q

mitochondrial disorders

A
  • mitochondrial or nuclear DNA mutations!!

- may be syndromic- MELAS (mitochondrial encephalomyopathy w lactic acidosis and stroke-like sx’s)

23
Q

Pompe dz

A

(Glycogen Storage Disorder type 2)

  • AR!!
  • presents in early infancy
  • weakness, hypotonia
24
Q

Myotonia Congenita

A
  • mutation of CLCN1 (cl channel) gene mutation
  • m stiffness
  • AD or AR
25
Q

Periodic paralysis

A
  • hypokalemic

- hyperkalemic

26
Q

Juvenile dermatomyositis

A
  • most common idiopathic infl myopathy in children!!!
  • m weakness (proximal > distal)
  • red/purple heliotrope rash over eyelids
  • Gottron papules (extensor joint surfaces)
27
Q

Statin Induced Myopathy

A

Statins can cause:

-Necrotizing and infl myopathy: m weakness, pain, tenderness

28
Q

Lab tests of m dz- test that determines if liver is involved?

A

GGT (gamma-glutamyl transferase) level

  • if elevated- liver
  • if normal- muscle

MSK Pharm (10 decks)

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