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Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
rare
genetic
syndrome
involving
dysmorphic
facial
features
,
and
reports
of
intellectual
disability
(
ID
)
.
We
examined
the
developmental
trajectory
of
neuropsychological
skills
in
a
child
with
KS
(
seen
at
ages
4
,
6
,
7
,
9
,
and
11
)
.
Examination
of
raw
and
age-corrected
standard
scores
suggests
that
language
-based
skills
developed
appropriately
,
but
visually
based
skills
slowed
and
reached
a
plateau
.
Executive
dysfunction
and
mood
symptoms
were
also
observed
.
While
ID
is
described
as
a
core
feature
of
KS
,
some
patients
may
not
meet
diagnostic
criteria
for
ID
,
and
may
be
better
described
as
having
specific
deficits
in
nonverbal
skills
.
Longitudinal
neuropsychological
assessment
of
children
with
KS
and
other
syndromes
associated
with
ID
is
warranted
to
understand
the
true
prevalence
of
ID
versus
isolated
cognitive
impairments
.
Diseases
Validation
Diseases presenting
"id is warranted to understand the true prevalence of id versus isolated cognitive impairments"
symptom
kabuki syndrome
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