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Predominant negative symptoms in 22q11.2 deletion syndrome and their associations with cognitive functioning and functional outcome.
[22q11.2 deletion syndrome]
22
q
11
.
2
deletion
syndrome
(
22
q
11
.
2
DS
)
is
a
neurogenetic
condition
associated
with
increased
risk
for
schizophrenia
.
No
study
do
date
has
explored
how
positive
and
negative
symptoms
of
psychosis
are
distributed
among
individual
patients
with
22
q
11
.
2
DS
and
if
distinct
patterns
of
symptoms
can
be
identified
.
Negative
symptoms
being
more
frequent
than
positive
symptoms
in
22
q
11
.
2
DS
,
we
expected
that
a
high
number
of
patients
would
display
predominant
negative
symptoms
(
PNS
)
,
whereas
predominant
positive
symptoms
would
be
less
frequently
reported
.
The
present
study
aims
at
investigating
the
cognitive
deficits
and
functional
outcome
associated
with
distinct
patterns
of
psychotic
symptoms
in
22
q
11
.
2
DS
.
63
adolescents
and
young
adults
with
22
q
11
.
2
DS
participated
in
this
study
.
Each
participant
underwent
a
clinical
and
a
cognitive
evaluation
.
A
cluster
analysis
was
used
to
identify
groups
of
individuals
with
distinct
patterns
of
symptoms
.
Individuals
from
the
different
clusters
were
then
compared
on
a
series
of
cognitive
measures
and
on
functional
outcome
.
Three
clusters
of
individuals
were
identified
:
low
levels
of
symptoms
,
PNS
,
and
high
levels
of
symptoms
.
Individuals
with
PNS
had
significantly
lower
visual
memory
scores
and
decreased
processing
speed
compared
to
participants
with
low
levels
of
symptoms
.
They
were
also
rated
as
having
lower
functional
and
occupational
outcome
.
The
present
results
indicate
that
one
third
of
adolescents
and
young
adults
with
22
q
11
.
2
DS
display
PNS
.
This
pattern
of
symptoms
was
associated
with
specific
cognitive
deficits
and
decreased
functional
outcome
.
Future
studies
are
needed
to
examine
the
developmental
trajectories
of
these
individuals
and
assess
their
risk
of
conversion
to
full-blown
psychosis
.
Diseases
Validation
Diseases presenting
"cognitive deficits"
symptom
22q11.2 deletion syndrome
alexander disease
classical phenylketonuria
cowden syndrome
cushing syndrome
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
phenylketonuria
sneddon syndrome
triple a syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
This symptom has already been validated
