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Pre-pulse inhibition and antisaccade performance indicate impaired attention modulation of cognitive inhibition in 22q11.2 deletion syndrome (22q11DS).
[22q11.2 deletion syndrome]
22
q
11
.
2
deletion
syndrome
(
22
q
11
DS
)
is
associated
with
a
number
of
physical
anomalies
and
neuropsychological
deficits
including
impairments
in
executive
and
sensorimotor
function
.
It
is
estimated
that
25
%
of
children
with
22
q
11
DS
will
develop
schizophrenia
and
other
psychotic
disorders
later
in
life
.
Evidence
of
genetic
transmission
of
information
processing
deficits
in
schizophrenia
suggests
performance
in
22
q
11
DS
individuals
will
enhance
understanding
of
the
neurobiological
and
genetic
substrates
associated
with
information
processing
.
In
this
report
,
we
examine
information
processing
in
22
q
11
DS
using
measures
of
startle
eyeblink
modification
and
antisaccade
inhibition
to
explore
similarities
with
schizophrenia
and
associations
with
neurocognitive
performance
.
Startle
modification
(
passive
and
active
tasks
;
120
-
and
480
-
ms
pre-pulse
intervals
)
and
antisaccade
inhibition
were
measured
in
25
individuals
with
genetically
confirmed
22
q
11
DS
and
30
healthy
control
subjects
.
Individuals
with
22
q
11
DS
exhibited
increased
antisaccade
error
as
well
as
some
evidence
(
trend-level
effect
)
of
impaired
sensorimotor
gating
during
the
active
condition
,
suggesting
a
dysfunction
in
controlled
attentional
processing
,
rather
than
a
pre-attentive
dysfunction
using
this
paradigm
.
The
findings
from
the
present
study
show
similarities
with
previous
studies
in
clinical
populations
associated
with
22
q
11
DS
such
as
schizophrenia
that
may
indicate
shared
dysfunction
of
inhibition
pathways
in
these
groups
.
Diseases
Validation
Diseases presenting
"schizophrenia"
symptom
22q11.2 deletion syndrome
achondroplasia
alexander disease
cadasil
child syndrome
congenital toxoplasmosis
kabuki syndrome
kallmann syndrome
krabbe disease
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
zellweger syndrome
This symptom has already been validated