Exam 3

Question 1

Hypotonia manifestations

Answer 1

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

Question 2

Tone

Answer 2

resistance to stretch

Question 3

hypotonic infant resting posture

Answer 3

frog-leg position

Question 4

hypotonic infant passive manipulation

Answer 4

head, trunk control in vertical/horizontal suspension

Question 5

Hypotonia disorder location

Answer 5

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

Question 6

Central hypotonia

Answer 6

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

Question 7

Peripheral hypotonia

Answer 7

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

Question 8

Cause of hypotonia

Answer 8

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

Question 9

dysmorphisms definition

Answer 9

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

Question 10

dysgenesis definition

Answer 10

defective development especially of the gonads

Question 11

SMA is caused by…

Answer 11

Undevelopment of the anterior horn

Question 12

NMJ disorders

Answer 12

Myasthenia gravis pr hypermagnesemia

Question 13

Muscle dysfunction

Answer 13

myopathy

Question 14

Peripheral nerve dysfunction

Answer 14

metabolic/genetic

Question 15

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

Answer 15

Arthrogryposis

Question 16

in newborns helps prevent muscle atrophy and improves joint function

Answer 16

Arthrogryposis PT treatments

Question 17

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

Answer 17

Arthrogryposis passive enhancement treatments

Question 18

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

Answer 18

Arthrogryposis surgical treatments

Question 19

Useful things to find out about mothers to diagnose hypotonia

Answer 19

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)

Question 20

Tests to run to diagnose central hypotonia

Answer 20

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

Question 21

Tests to run for peripheral hypotonia

Answer 21

serum creatine PK
EMG
Gene panel

Question 22

Spinal Muscular Atrophy (SMA)

Answer 22

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

Question 23

Prognosis of SMA Type 1

Answer 23

onset before 6 mo.
the patient will never sit

Question 24

Prognosis of SMA Type 2

Answer 24

onset at 6-18 mo.
patient will never walk

Question 25

Prognosis of SMA Type 3

Answer 25

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

Question 26

Prognosis of SMA Type 4

Answer 26

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

Question 27

Treatment for SMA

Answer 27

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

Question 28

What is the primary genetic disease of muscle

Answer 28

myopathy

Question 29

Myopathy symptoms...

Answer 29

- proximal weakness - elevated serum creatine kinase - diagnosis via gene test or muscle biopsy

Question 30

Clinical manifestation of myopathy

Answer 30

- hypotonia and mild proximal muscle weakness - facial weakness - weakness is nonprogressive

Question 31

Transient neonatal myasthenia

Answer 31

transplacental transfer of AchR antibodies - good response to AchE inhibitors

Question 32

Congenital Myasthenia

Answer 32

- genetic disorders of NMJ - rarely respond to AchE inhibitors

Question 33

Testing for Myasthenia

Answer 33

tensilon test (injection of AchE inhibitor)

Question 34

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?

Answer 34

Dx= central hypotonia

Question 35

Why do black people become sicker and die earlier?

Answer 35

- poverty - don't receive the same quality of treatment

Question 36

Explicit bias

Answer 36

- conscious - self-reported - decline in incidence over time

Question 37

Implicit bias

Answer 37

- learned stereotypes and prejudices - automatic and unconscious -difficult to change

Question 38

Affect of biases

Answer 38

- inherent in human psychology - affect interpretation of world around us - exist for a wide range of topics

Question 39

Affect of biases

Answer 39

- inherent in human psychology - affect the interpretation of the world around us - exist for a wide range of topics

Question 40

System 1 thinking in medicine (implicit bias dual processes)

Answer 40

- fast -automatic - pattern recognition

Question 41

System 2 thinking in medicine (implicit bias dual processes)

Answer 41

- slow - concentration - deliberation

Question 42

What are high in black premies due to segregated neighborhoods?

Answer 42

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

Question 43

infant testing timeline

Answer 43

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

Question 44

Newborn screens

Answer 44

tested for 50 genetic disorders and hypothyroidism

Question 45

What reasons can parents refuse blood spot screenings

Answer 45

religious beliefs or practices

Question 46

All newborns are screened for...(in tx)

Answer 46

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

Question 47

Newborn second screening should be done (when?)

Answer 47

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

Question 48

All newborn screening blood

Answer 48

collected by heel stick and is sent to Austin

Question 49

Why newborn screening is important

Answer 49

- many disorders tested are rare, but serious and may cause irreparable damage first days to weeks or life

Question 50

Newborn screenings could...

Answer 50

- 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