Rare Diseases Symptoms Automatic Extraction
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Psychopathology and cognition in children with 22q11.2 deletion syndrome.
[22q11.2 deletion syndrome]
Children
with
22
q
11
.
2
deletion
syndrome
(
22
q
11
.
2
DS
)
have
been
reported
to
have
high
rates
of
cognitive
and
psychiatric
problems
.
To
establish
the
nature
and
prevalence
of
psychiatric
disorder
and
neurocognitive
impairment
in
children
with
22
q
11
.
2
DS
and
test
whether
risk
of
psychopathology
is
mediated
by
the
children
's
intellectual
impairment
.
Neurocognition
and
psychopathology
were
assessed
in
80
children
with
22
q
11
.
2
DS
(
mean
age
10
.
2
years
,
s
.
d
.
=
2
.
1
)
and
39
sibling
controls
(
mean
age
10
.
9
years
,
s
.
d
.
=
2
.
0
)
.
More
than
half
(
54
%
)
of
children
with
22
q
11
.
2
DS
met
diagnostic
criteria
for
one
or
more
DSM
-IV-TR
psychiatric
disorder
.
These
children
had
lower
IQ
(
mean
76
.
8
,
s
.
d
.
=
13
.
0
)
than
controls
(
mean
108
.
6
,
s
.
d
.
=
15
.
2
)
(
P
<
0
.
001
)
and
showed
a
range
of
neurocognitive
impairments
.
Increased
risk
of
psychopathology
was
not
mediated
by
intellectual
impairment
.
22
q
11
.
2
DS
is
not
related
to
a
specific
psychiatric
phenotype
in
children
.
Moreover
,
the
deletion
has
largely
independent
effects
on
IQ
and
risk
of
psychopathology
,
indicating
that
psychopathology
in
22
q
11
.
2
DS
is
not
a
non-
specific
consequence
of
generalised
cognitive
impairment
.
Diseases
Validation
Diseases presenting
"cognitive impairment"
symptom
22q11.2 deletion syndrome
cadasil
canavan disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
locked-in syndrome
phenylketonuria
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated
