Newman Flashcards

1
Q

when should a toddler be screened for autism

A

18 and 24 months

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2
Q

what should a baby be doing a 6 months

A
  • Babbles (consonants)

- sits momentarily

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3
Q

what should a baby be doing at 9 months

A
  • momma/dada (nonspecific)
  • pulls up
  • cruises
  • sits well without support
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4
Q

What should a baby be doing at 1 year

A
  • separation anxiety
  • momma/dada (specific)
  • Stacks 3 cubes
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5
Q

baby at 2 years

A
  • 2 words together
  • 2/4 of language understood by ppl who don’t live in the home
  • Starting interest in potty training
  • 6 blocks
  • copy a line
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6
Q

Baby at 3 years

A
  • Tricycle
  • 3 numbers, 3 colors, 3 words together
  • playing in groups of 3
  • 9 blocks
  • 3/4 or speech understood by strangers
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7
Q

baby at 4 years

A
  • 4 body parts
  • 4/4 of speech understandable by strangers
  • past tense (“before”)
  • copies a cross (1 line at 2 years, 2 lines at 4 years)
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8
Q

baby at 6 years

A
  • ties shoes
  • skips
  • Draws a person with 6 parts
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9
Q

pediatric myopathies I need to know

A
  • Muscular dystrophies: Duchenne and Becker
  • mitochondrial disorders
  • Glycogen storage disorder type 2 (Pompe Disease)
  • Acquired muscle disorders: Juvenile dermatomyositis
  • Drugs and toxins causing muscle weakness and elevated CK levels: statin induced myopathy
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10
Q

when should a baby be able to plank in your hand

A

4 months

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11
Q

what areas of body are involved in Duchenned and Becker muscular dystrophy

A

proximal limbs

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12
Q

genetics of Duchenne Muscular Dystrophy

A
  • X-linked recessive
  • so half of sons have it and half of daughters are carriers
  • OUT of FRAME mutations
  • ABSENCE of dystrophin
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13
Q

describe effects of Duchenne on daughter carriers

A
  • may have CK elevations

- may develop cardiomyopathy

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14
Q

clinical aspects of Duchenne

A
  • Rarely have antigravity neck flexor strength
  • Gower’s sign (due to proximal muscle weakness): patients has to use their hands and arms to walk up their own body from a squatting position
  • Calf and thigh muscles enlarged in beginning (true muscle hypertrophy and later replaced by fat and connective tissue
  • Toe-walking by age 6
  • wheel chair by 12-13 . . then scoliosis
  • Compromised respiratory status . . respiratory failure is a common cause of death
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15
Q

Reflexes in Duchenne

A

diminished reflexes at knew, biceps, triceps

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16
Q

Genetics for Becker muscular dystrophy

A
  • X-linked recessive
  • in frame mutations
  • abnormal or semi functional dystrophin
17
Q

clinical aspects of becker

A
  • basically just less severe

- age of death varies b/t fourth and sixth decades

18
Q

case highlights for Duchenne

A
  • serum CK is 50 times normal

- affects only male members on maternal side

19
Q

highlights for congenital muscular dystrophies

A
  • Present at birth

- possible clubbed feet

20
Q

highlights for mitochrondrial disorders

A
  • mitochrondrial or nuclear DNA mutations

- may be “syndromeic” (example: mitochondrial encephalomyopathy with lactic acidosis and stroke-like symptoms or MELAS)

21
Q

highlights fro Glycogen storage disorder type 2 (pompe disease)

A
  • Autosomal recessive
  • Acid a-glucosidase gene mutation
  • can treat with enzymatic treatment (myozyme)
22
Q

Highlights for Myotonia Congenita

A

-mutation of the chloride channel CLCN1 gene mutations

23
Q

highlights for periodic paralysis

A
  • repeated episodesof flacced paralysis of the 4 extremities
  • hypokalemic
  • Hyperkalemic
24
Q

highlights for Juvenile dermatomyositis

A
  • Most common idiopathic inflammatory myopathy in children
  • red or purplish heliotrope rash over eyelids
  • Raised erythematous papules over the extensor joint surfaces (Gottren Papules)
25
Q

highlights for statin induced myopathy

A
  • necrotizing and inflammatory myopathy
  • muscle weakness
  • pain
  • tenderness
  • elevation of CK more than 10x normal
26
Q

lab tests for muscle Disease

A
  • Serum CK
  • GGT (Gamma glutamyl transferase) level can help determine if the liver is involved . if elevated think liver . . if normal think muscle