what d/o is prader willi often comorbidly associated with? Answer - OCD
Frotteuristic disorder Answer - 6 month period of recurrent & intense sexual
arousing fantasies of rubbing against or fondling an unconsenting person
pedophilic disorder Answer - a paraphilic disorder in which a person has
repeated and intense sexual urges or fantasies about watching, touching, or
engaging in sexual acts with prepubescent children, and either acts on these
urges or experiences clinically significant distress or impairment
--individual must be at least 16 yo and at least 5 years older than the
prepubescent child
how is down syndrome dx confirmed? Answer - karyotype testing of child for
the free trisomy 21
MOA of Phenelzine Answer - MAOI thus *enzyme inhibition*
--Irreversibly blocks monoamine oxidase from breaking down dopamine, NE
and serotonin so there's increased neurotransmission of these monoamines
What's phenelzine FDA-approved for? Answer - depressed pts with particular
features: atypical, nonendogenous, or neurotic
Besides the different duration of symptoms, what differentiates dx of
schizophreniform d/o from schizophrenia? Answer - *No requirement for
functional impairment*
-it's often present though
-w/dx of schizophrenia: there has to be functioning markedly below the level
achieved before onset of disturbance and present for significant time period
since then
what are indications for karyotype analysis? Answer - -clinical suspicion of a
common aneuploidy ( down syndrome, klinefelter syndrome XXY)
-possible balanced translocation (maternal hx of frequent miscarriages, FH
translocation)
-When chromosomal microarray is UNAVAILABLE
what's the first-line test for unexplained intellectual disability? Answer -
chromosomal microarray
test for fragile X syndrome? Answer - trinucleotide REPEAT EXPANSION test for
FMR1 gene (FMRP Translational regulator 1 gene)
--repeats of cytosine-guanine-guanine
turner syndrome 45X Answer - PE: short stature,webbed neck,delayed 2ndary
sexual characteristics &menstruation. usually normal intellect
-DX: karyotype
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