Rare Diseases Symptoms Automatic Extraction
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Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21.
[monosomy 21]
This
case
study
describes
the
neurocognitive
presentation
of
a
child
with
identified
genetic
abnormalities
of
trisomy
6
and
monosomy
21
who
was
evaluated
as
part
of
a
standard
medical
protocol
for
cochlear
implantation
following
diagnosis
of
profound
sensorineural
hearing
loss
.
This
child
received
neurocognitive
testing
prior
to
cochlear
implantation
and
approximately
12
months
post-activation
of
his
cochlear
implant
.
While
he
has
not
fully
developed
oral
language
,
his
presentation
suggested
improvement
in
overall
skills
since
the
activation
of
the
cochlear
implant
;
however
,
less
than
would
be
expected
for
a
typically
developing
child
.
Diseases
Validation
Diseases presenting
"sensorineural hearing loss"
symptom
canavan disease
congenital diaphragmatic hernia
dentin dysplasia
dentinogenesis imperfecta
hirschsprung disease
holt-oram syndrome
monosomy 21
pendred syndrome
triple a syndrome
This symptom has already been validated