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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
"debilitating psychiatric disorder"
symptom
22q11.2 deletion syndrome
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