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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
"schizophrenia"
symptom
22q11.2 deletion syndrome
achondroplasia
alexander disease
cadasil
child syndrome
congenital toxoplasmosis
kabuki syndrome
kallmann syndrome
krabbe disease
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
zellweger syndrome
This symptom has already been validated
