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The development of cognitive control in children with chromosome 22q11.2 deletion syndrome.
[22q11.2 deletion syndrome]
Chromosome
22
q
11
.
2
Deletion
Syndrome
(
22
q
11
.
2
DS
)
is
caused
by
the
most
common
human
microdeletion
,
and
it
is
associated
with
cognitive
impairments
across
many
domains
.
While
impairments
in
cognitive
control
have
been
described
in
children
with
22
q
11
.
2
DS
,
the
nature
and
development
of
these
impairments
are
not
clear
.
Children
with
22
q
11
.
2
DS
and
typically
developing
children
(
TD
)
were
tested
on
four
well-validated
tasks
aimed
at
measuring
specific
foundational
components
of
cognitive
control
:
response
inhibition
,
cognitive
flexibility
,
and
working
memory
.
Molecular
assays
were
also
conducted
in
order
to
examine
genotype
of
catechol-
O-
methyltransferase
(
COMT
)
,
a
gene
located
within
the
deleted
region
in
22
q
11
.
2
DS
and
hypothesized
to
play
a
role
in
cognitive
control
.
Mixed
model
regression
analyses
were
used
to
examine
group
differences
,
as
well
as
age-related
effects
on
cognitive
control
component
processes
in
a
cross-sectional
analysis
.
Regression
models
with
COMT
genotype
were
also
conducted
in
order
to
examine
potential
effects
of
the
different
variants
of
the
gene
.
Response
inhibition
,
cognitive
flexibility
,
and
working
memory
were
impaired
in
children
with
22
q
11
.
2
DS
relative
to
TD
children
,
even
after
accounting
for
global
intellectual
functioning
(
as
measured
by
full-scale
IQ
)
.
When
compared
with
TD
individuals
,
children
with
22
q
11
.
2
DS
demonstrated
atypical
age-related
patterns
of
response
inhibition
and
cognitive
flexibility
.
Both
groups
demonstrated
typical
age-related
associations
with
working
memory
.
The
results
of
this
cross-sectional
analysis
suggest
a
specific
aberration
in
the
development
of
systems
mediating
response
inhibition
in
a
sub-set
of
children
with
22
q
11
.
2
DS
.
It
will
be
important
to
follow
up
with
longitudinal
analyses
to
directly
examine
these
developmental
trajectories
,
and
correlate
neurocognitive
variables
with
clinical
and
adaptive
outcome
measures
.
Diseases
Validation
Diseases presenting
"mixed model regression analyses"
symptom
22q11.2 deletion syndrome
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