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Cognitive characteristics of PTEN hamartoma tumor syndromes.
[cowden syndrome]
We
sought
to
characterize
cognition
in
individuals
with
germline
PTEN
mutations
(
n
=
23
)
as
well
as
in
PTEN
mutation
-negative
individuals
with
classic
Cowden
syndrome
or
Bannayan-
Riley
-
Ruvalcaba
syndrome
(
n
=
2
)
.
Twenty
-
five
individuals
completed
a
comprehensive
neuropsychological
evaluation
.
One
sample
t-tests
and
effect
sizes
were
used
to
examine
differences
in
participant
test
scores
compared
with
normal
controls
.
Composite
scores
were
created
for
each
patient
within
each
of
the
cognitive
domains
assessed
and
classified
as
above
average
,
average
,
or
below
average
according
to
normative
standards
.
χ
(
2
)
analyses
compared
these
classifications
to
expected
proportions
in
normal
control
samples
.
The
mean
intelligence
quotient
was
in
the
average
range
,
and
the
range
of
intellectual
functioning
was
very
wide
(
from
extremely
low
to
very
superior
)
.
However
,
in
a
large
subset
of
patients
,
scores
were
lower
than
expected
on
measures
of
motor
functioning
,
executive
functioning
,
and
memory
recall
,
suggesting
disruption
of
frontal
circuits
in
these
participants
.
This
is
the
first
study
to
characterize
cognition
in
individuals
with
PTEN
mutations
and
associated
syndromes
using
a
comprehensive
neuropsychological
battery
.
Contrary
to
previous
reports
suggesting
an
association
with
intellectual
disability
,
the
mean
intelligence
quotient
was
average
,
and
there
was
a
broad
range
of
intellectual
abilities
.
Specific
evidence
of
disruption
of
frontal
circuits
may
have
implications
for
treatment
compliance
and
cancer
surveillance
,
and
further
investigation
is
warranted
.
Diseases
Validation
Diseases presenting
"intellectual abilities"
symptom
cowden syndrome
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