Rare Diseases Symptoms Automatic Extraction
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Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): autism spectrum disorder or a different endophenotype?
[22q11.2 deletion syndrome]
High
prevalence
of
autism
spectrum
disorders
(
ASD
)
has
been
reported
in
22
q
11
.
2
DS
,
although
this
has
been
based
solely
on
parent
report
measures
.
This
study
describes
the
presence
of
ASD
using
a
procedure
more
similar
to
that
used
in
clinical
practice
by
incorporating
history
(
Social
Communication
Questionnaire
)
AND
a
standardized
observation
measure
(
Autism
Diagnostic
Observation
Schedule
)
and
suggests
that
ASD
is
not
as
common
as
previously
reported
in
22
q
11
.
2
DS
.
Differences
in
methodology
,
along
with
comorbid
conditions
such
as
anxiety
,
likely
contribute
to
false
elevations
in
ASD
prevalence
and
information
from
multiple
sources
should
be
included
in
the
evaluation
of
ASD
.
Diseases
Validation
Diseases presenting
"autism spectrum disorders"
symptom
22q11.2 deletion syndrome
canavan disease
cowden syndrome
kabuki syndrome
proteus syndrome
wolf-hirschhorn syndrome
This symptom has already been validated
