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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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated