Exam 3 Flashcards
Hypotonia manifestations
failure to progress, axillary slippage, minimal suck, head lag, little spontaneous movement, normal exam without dysmorphic features
Tone
resistance to stretch
hypotonic infant resting posture
frog-leg position
hypotonic infant passive manipulation
head, trunk control in vertical/horizontal suspension
Hypotonia disorder location
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
Central hypotonia
Central(brain/spinal cord) with normal bulk, normal/mild weakness, normal/increased reflexes, dysmorphisms, encephalopathy
Peripheral hypotonia
Peripheral (anterior horn cell, peripheral nerve, NMJ, muscle) with marked weakness, decreased bulk, decreased reflexes, alert and awake, no dysmorphisms
Cause of hypotonia
anything that affects the brain: prematurity(hypotonia is normal!), sepsis, maternal narcotics, hypothyroidism, HIE, Inborn errors of metabolism, cerebral dysgenesis
dysmorphisms definition
the condition of having an abnormally shaped body part, especially as a congenital condition
dysgenesis definition
defective development especially of the gonads
SMA is caused by…
Undevelopment of the anterior horn
NMJ disorders
Myasthenia gravis pr hypermagnesemia
Muscle dysfunction
myopathy
Peripheral nerve dysfunction
metabolic/genetic
contractures resulting from fetal immobility of any cause(curved joints)
Arthrogryposis
in newborns helps prevent muscle atrophy and improves joint function
Arthrogryposis PT treatments
several assistive devices are available which enable the muscle movement and exercise
Arthrogryposis passive enhancement treatments
Tendon transfer, soft tissue release or skin flaps may be required
Arthrogryposis surgical treatments
Useful things to find out about mothers to diagnose hypotonia
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)
Tests to run to diagnose central hypotonia
Brain MRI
karyotype
metabolic screen
gene screen (testing thyroid, electrolytes(Mg, Ca), Glu)
Tests to run for peripheral hypotonia
serum creatine PK
EMG
Gene panel
Spinal Muscular Atrophy (SMA)
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
Prognosis of SMA Type 1
onset before 6 mo.
the patient will never sit
Prognosis of SMA Type 2
onset at 6-18 mo.
patient will never walk
Prognosis of SMA Type 3
onset at childhood 1 yr
patient will be able to walk for a few years
Prognosis of SMA Type 4
onset after 30 yrs
patient will be able to walk for decades
Treatment for SMA
Nusinersen (antisense oligonucleotide) induces alternative splicing of SMN2 mRNA, functionally converting it into SMN1 mRNA
What is the primary genetic disease of muscle
myopathy
Myopathy symptoms…
- proximal weakness
- elevated serum creatine kinase
- diagnosis via gene test or muscle biopsy
Clinical manifestation of myopathy
- hypotonia and mild proximal muscle weakness
- facial weakness
- weakness is nonprogressive
Transient neonatal myasthenia
transplacental transfer of AchR antibodies
- good response to AchE inhibitors
Congenital Myasthenia
- genetic disorders of NMJ
- rarely respond to AchE inhibitors
Testing for Myasthenia
tensilon test (injection of AchE inhibitor)
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?
Dx= central hypotonia
Why do black people become sicker and die earlier?
- poverty
- don’t receive the same quality of treatment
Explicit bias
- conscious
- self-reported
- decline in incidence over time
Implicit bias
- learned stereotypes and prejudices
- automatic and unconscious
-difficult to change
Affect of biases
- inherent in human psychology
- affect interpretation of world around us
- exist for a wide range of topics
Affect of biases
- inherent in human psychology
- affect the interpretation of the world around us
- exist for a wide range of topics
System 1 thinking in medicine (implicit bias dual processes)
- fast
-automatic - pattern recognition
System 2 thinking in medicine (implicit bias dual processes)
- slow
- concentration
- deliberation
What are high in black premies due to segregated neighborhoods?
IVH rates are higher in black premies because of access to different hospitals
infant testing timeline
1st screen at 24-48 hrs of age
2nd screen 1-2 weeks of age
Newborn screens
tested for 50 genetic disorders and hypothyroidism
What reasons can parents refuse blood spot screenings
religious beliefs or practices
All newborns are screened for…(in tx)
specific neurologic, metabolic, endocrine, hematologic, and other disorders 24 to 48 hrs after birth
Newborn second screening should be done (when?)
should be received between 7-14 days after birth to identify disorders that may not have been evident
All newborn screening blood
collected by heel stick and is sent to Austin
Why newborn screening is important
- many disorders tested are rare, but serious and may cause irreparable damage first days to weeks or life
Newborn screenings could…
- 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
