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Neonatal Neurology > Exam 3 > Flashcards

Exam 3 Flashcards

1
Q

Hypotonia manifestations

A

failure to progress, axillary slippage, minimal suck, head lag, little spontaneous movement, normal exam without dysmorphic features

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2
Q

Tone

A

resistance to stretch

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3
Q

hypotonic infant resting posture

A

frog-leg position

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4
Q

hypotonic infant passive manipulation

A

head, trunk control in vertical/horizontal suspension

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5
Q

Hypotonia disorder location

A

localized in injuries in the frontal lobe i.e. metabolic diseases, cerebral dysgenesis, hypoxic-ischemic injuries, spinal cord injuries, chromosome disorders such as Prader-Willi disease

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6
Q

Central hypotonia

A

Central(brain/spinal cord) with normal bulk, normal/mild weakness, normal/increased reflexes, dysmorphisms, encephalopathy

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7
Q

Peripheral hypotonia

A

Peripheral (anterior horn cell, peripheral nerve, NMJ, muscle) with marked weakness, decreased bulk, decreased reflexes, alert and awake, no dysmorphisms

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8
Q

Cause of hypotonia

A

anything that affects the brain: prematurity(hypotonia is normal!), sepsis, maternal narcotics, hypothyroidism, HIE, Inborn errors of metabolism, cerebral dysgenesis

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9
Q

dysmorphisms definition

A

the condition of having an abnormally shaped body part, especially as a congenital condition

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10
Q

dysgenesis definition

A

defective development especially of the gonads

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11
Q

SMA is caused by…

A

Undevelopment of the anterior horn

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12
Q

NMJ disorders

A

Myasthenia gravis pr hypermagnesemia

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13
Q

Muscle dysfunction

A

myopathy

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14
Q

Peripheral nerve dysfunction

A

metabolic/genetic

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15
Q

contractures resulting from fetal immobility of any cause(curved joints)

A

Arthrogryposis

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16
Q

in newborns helps prevent muscle atrophy and improves joint function

A

Arthrogryposis PT treatments

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17
Q

several assistive devices are available which enable the muscle movement and exercise

A

Arthrogryposis passive enhancement treatments

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18
Q

Tendon transfer, soft tissue release or skin flaps may be required

A

Arthrogryposis surgical treatments

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19
Q

Useful things to find out about mothers to diagnose hypotonia

A

mother’s medical history (illness, fever)

information about pregnancies (polyhydramnios-high amniotic fluid, fetal movement, abnormal position)

about the delivery (complicated/prolonged, trauma, Apgar score)

Family history (delayed miles stones, weakness)

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20
Q

Tests to run to diagnose central hypotonia

A

Brain MRI
karyotype
metabolic screen
gene screen (testing thyroid, electrolytes(Mg, Ca), Glu)

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21
Q

Tests to run for peripheral hypotonia

A

serum creatine PK
EMG
Gene panel

22
Q

Spinal Muscular Atrophy (SMA)

A

an autosomal recessive disorder that causes weakness and atrophy of muscles including the tongue
- symmetric weakness
- tongue fasciculations
-absent DTR’S (deep tendon reflex)
-normal intellectual capacity

23
Q

Prognosis of SMA Type 1

A

onset before 6 mo.
the patient will never sit

24
Q

Prognosis of SMA Type 2

A

onset at 6-18 mo.
patient will never walk

25
Q

Prognosis of SMA Type 3

A

onset at childhood 1 yr
patient will be able to walk for a few years

26
Q

Prognosis of SMA Type 4

A

onset after 30 yrs
patient will be able to walk for decades

27
Q

Treatment for SMA

A

Nusinersen (antisense oligonucleotide) induces alternative splicing of SMN2 mRNA, functionally converting it into SMN1 mRNA

28
Q

What is the primary genetic disease of muscle

A

myopathy

29
Q

Myopathy symptoms…

A
  • proximal weakness
  • elevated serum creatine kinase
  • diagnosis via gene test or muscle biopsy
30
Q

Clinical manifestation of myopathy

A
  • hypotonia and mild proximal muscle weakness
  • facial weakness
  • weakness is nonprogressive
31
Q

Transient neonatal myasthenia

A

transplacental transfer of AchR antibodies
- good response to AchE inhibitors

32
Q

Congenital Myasthenia

A
  • genetic disorders of NMJ
  • rarely respond to AchE inhibitors
33
Q

Testing for Myasthenia

A

tensilon test (injection of AchE inhibitor)

34
Q

During a visit for a 3-week-old boy, his father expresses concern his son ‘doesn’t look like’ his other 2 children. Growth parameters are normal except head circumference of 35.5 cm (<5th %ile)
On exam, the infant does not fixate or track your face visually. There is a ‘slip through’ on vertical suspension and ‘draping over’ on horizontal suspension. DTRs are brisk. Moro reflex is present and brisk

Dx?

A

Dx= central hypotonia

35
Q

Why do black people become sicker and die earlier?

A
  • poverty
  • don’t receive the same quality of treatment
36
Q

Explicit bias

A
  • conscious
  • self-reported
  • decline in incidence over time
37
Q

Implicit bias

A
  • learned stereotypes and prejudices
  • automatic and unconscious
    -difficult to change
38
Q

Affect of biases

A
  • inherent in human psychology
  • affect interpretation of world around us
  • exist for a wide range of topics
39
Q

Affect of biases

A
  • inherent in human psychology
  • affect the interpretation of the world around us
  • exist for a wide range of topics
40
Q

System 1 thinking in medicine (implicit bias dual processes)

A
  • fast
    -automatic
  • pattern recognition
41
Q

System 2 thinking in medicine (implicit bias dual processes)

A
  • slow
  • concentration
  • deliberation
42
Q

What are high in black premies due to segregated neighborhoods?

A

IVH rates are higher in black premies because of access to different hospitals

43
Q

infant testing timeline

A

1st screen at 24-48 hrs of age
2nd screen 1-2 weeks of age

44
Q

Newborn screens

A

tested for 50 genetic disorders and hypothyroidism

45
Q

What reasons can parents refuse blood spot screenings

A

religious beliefs or practices

46
Q

All newborns are screened for…(in tx)

A

specific neurologic, metabolic, endocrine, hematologic, and other disorders 24 to 48 hrs after birth

47
Q

Newborn second screening should be done (when?)

A

should be received between 7-14 days after birth to identify disorders that may not have been evident

48
Q

All newborn screening blood

A

collected by heel stick and is sent to Austin

49
Q

Why newborn screening is important

A
  • many disorders tested are rare, but serious and may cause irreparable damage first days to weeks or life
50
Q

Newborn screenings could…

A
  • detect serious congenital disorders before symptoms are present
  • lead to the diagnosis and treatment that can reduce serious problems, including cognitive and developmental delays, and avoid death

Neonatal Neurology (2 decks)

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