Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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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 disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated