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Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.
[22q11.2 deletion syndrome]
Children
with
22
q
11
.
2
deletion
syndrome
(
22
q
11
DS
)
present
with
congenital
heart
disease
(
CHD
)
and
high
prevalence
of
psychiatric
disorders
and
neurocognitive
deficits
.
Although
CHD
has
been
implicated
in
neurodevelopment
,
its
role
in
the
neuropsychiatric
outcome
in
22
q
11
DS
is
poorly
understood
.
We
investigated
whether
CHD
contributes
to
the
high
prevalence
of
psychiatric
disorders
and
neurocognitive
impairments
in
22
q
11
DS
.
Fifty
-
four
children
ages
8
-
14
years
with
22
q
11
DS
and
16
age-matched
non-deleted
children
with
CHD
participated
.
They
were
assessed
using
semi-structured
interviews
and
a
Computerized
Neurocognitive
Battery
.
CHD
status
was
assessed
using
available
medical
records
.
Prevalence
of
psychiatric
disorders
and
cognitive
profiles
were
compared
among
the
groups
.
There
were
no
significant
differences
between
the
prevalence
of
psychiatric
disorders
in
the
22
q
11
DS
with
and
without
CHD
.
In
22
q
11
DS
with
CHD
,
the
prevalence
rates
were
41
%
anxiety
disorders
,
37
%
ADHD
and
71
%
psychosis
spectrum
.
In
22
q
11
DS
without
CHD
,
the
rates
were
33
%
anxiety
disorders
,
41
%
ADHD
and
64
%
psychosis
spectrum
.
In
comparison
,
the
non-deleted
CHD
group
had
lower
rates
of
psychopathology
(
25
%
anxiety
disorders
,
6
%
ADHD
,
and
13
%
psychosis
spectrum
)
.
Similarly
,
the
22
q
11
DS
groups
,
regardless
of
CHD
status
,
had
significantly
greater
neurocognitive
deficits
across
multiple
domains
,
compared
to
the
CHD-only
group
.
We
conclude
that
CHD
in
this
sample
of
children
with
22
q
11
.
2
DS
does
not
have
a
major
impact
on
the
prevalence
of
psychiatric
disorders
and
is
not
associated
with
increased
neurocognitive
deficits
.
These
findings
suggest
that
the
22
q
11
.
2
deletion
status
itself
may
confer
significant
neuropsychiatric
vulnerability
in
this
population
.
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