Pediatric Neurology-Lopez Flashcards
1
Q
What are the 6 major portions of the neurologic exam?
A
mental status cranial nerves motor exam sensory exam reflexes cerebellar exam
2
Q
What are some important primitive reflexes?
A
Grasp Babinski Neck righting Sucking Parachute Stepping Moro Others
3
Q
What are some potential tests that can be used in neurology?
A
neuro-imaging
genetic
EMG/NCV
4
Q
In patients with GDD/ID which tests were helpful & diagnostic?
A
microarray testing diagnostic on average in 7.8%
G-banded karyotype abnormal in 4%
sub-telomeric FISH positive in 3.5%
X-linked ID genes predictive
FMR1 shows full expansion in some patients
MeCP2 testing sometimes diagnostic
tests for glycosylation & cerebral creatinine disorders
5
Q
What is FMR1 testing diagnostic of? MeCP2 diagnostic of?
A
FMR1-Fragile X syndrome
MeCP2–Rett syndrome
