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Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome.
[22q11.2 deletion syndrome]
22
q
11
.
2
deletion
syndrome
(
22
q
11
.
2
DS
)
is
associated
with
high
rates
of
psychotic
disorder
,
particularly
schizophrenia
.
The
deletion
is
considered
to
be
a
biological
model
for
understanding
this
debilitating
psychiatric
disorder
.
It
is
unclear
whether
the
psychotic
manifestations
in
22
q
11
.
2
DS
are
similar
to
those
in
schizophrenia
patients
without
the
deletion
.
Catechol-
O-
methyltransferase
(
COMT
)
,
a
positional
candidate
gene
for
schizophrenia
,
resides
within
the
22
q
11
.
2
region
.
It
remains
unknown
whether
hemizygosity
for
this
gene
is
associated
with
risk
of
psychotic
disorder
.
This
study
includes
83
adults
with
22
q
11
.
2
DS
,
90
non-deleted
individuals
with
schizophrenia
,
and
316
normal
controls
.
Psychopathology
was
assessed
using
the
Schedules
for
Clinical
Assessment
in
Neuropsychiatry
,
the
Schedules
for
the
Assessment
of
Positive
and
Negative
Symptoms
and
the
Global
Assessment
Scale
.
Schizotypy
was
assessed
with
the
Kings
Schizotypy
Questionnaire
and
Oxford
Liverpool
Inventory
of
Feelings
and
Emotions
.
IQ
estimates
were
also
obtained
.
Adults
with
22
q
11
.
2
DS
were
genotyped
for
a
number
of
COMT
polymorphisms
as
well
as
the
Ashkenazi
risk
haplotype
.
This
study
confirms
high
rates
of
psychotic
disorder
(
29
%
)
in
individuals
with
22
q
11
.
2
DS
of
which
the
majority
had
schizophrenia
(
22
%
)
.
There
does
not
appear
to
be
a
differential
expression
of
schizophrenic
symptom
clusters
in
22
q
11
.
2
DS
in
relation
to
sporadic
schizophrenia
,
though
schizophrenia
in
22
q
11
.
2
DS
seems
to
be
less
severe
in
terms
of
global
assessment
scores
.
Psychosis
proneness
seems
to
be
of
genetic
origin
in
22
q
11
.
2
DS
as
individuals
with
22
q
11
.
2
DS
without
schizophrenia
had
higher
schizotypy
scores
than
normal
controls
.
Finally
,
COMT
was
not
associated
with
schizophrenia
status
or
schizotypy
.
Diseases
Validation
Diseases presenting
"psychosis"
symptom
22q11.2 deletion syndrome
child syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
sneddon syndrome
This symptom has already been validated
