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Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.
[22q11.2 deletion syndrome]
The
22
q
11
.
2
deletion
syndrome
(
22
q
11
DS
)
presents
with
medical
and
neuropsychiatric
manifestations
including
neurocognitive
deficits
.
Quantitative
neurobehavioral
measures
linked
to
brain
circuitry
can
help
elucidate
genetic
mechanisms
contributing
to
deficits
.
To
establish
the
neurocognitive
profile
and
neurocognitive
'
growth
charts
'
,
we
compared
cross-sectionally
137
individuals
with
22
q
11
DS
ages
8
-
21
to
439
demographically
matched
non-deleted
individuals
with
developmental
delay
(
DD
)
and
medical
comorbidities
and
443
typically
developing
(
TD
)
participants
.
We
administered
a
computerized
neurocognitive
battery
that
measures
performance
accuracy
and
speed
in
executive
,
episodic
memory
,
complex
cognition
,
social
cognition
and
sensorimotor
domains
.
The
accuracy
performance
profile
of
22
q
11
DS
showed
greater
impairment
than
DD
,
who
were
impaired
relative
to
TD
.
Deficits
in
22
q
11
DS
were
most
pronounced
for
face
memory
and
social
cognition
,
followed
by
complex
cognition
.
Performance
speed
was
similar
for
22
q
11
DS
and
DD
,
but
22
q
11
DS
individuals
were
differentially
slower
in
face
memory
and
emotion
identification
.
The
growth
chart
,
comparing
neurocognitive
age
based
on
performance
relative
to
chronological
age
,
indicated
that
22
q
11
DS
participants
lagged
behind
both
groups
from
the
earliest
age
assessed
.
The
lag
ranged
from
less
than
1
year
to
over
3
years
depending
on
chronological
age
and
neurocognitive
domain
.
The
greatest
developmental
lag
across
the
age
range
was
for
social
cognition
and
complex
cognition
,
with
the
smallest
for
episodic
memory
and
sensorimotor
speed
,
where
lags
were
similar
to
DD
.
The
results
suggest
that
22
q
11
.
2
microdeletion
confers
specific
vulnerability
that
may
underlie
brain
circuitry
associated
with
deficits
in
several
neuropsychiatric
disorders
,
and
therefore
help
identify
potential
targets
and
developmental
epochs
optimal
for
intervention
.
Diseases
Validation
Diseases presenting
"complex cognition"
symptom
22q11.2 deletion syndrome
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