Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Cognitive and psychological profiles in dysmorphic syndromes].
[cohen syndrome]
The
recognizable
patterns
of
human
malformations
have
recently
received
much
attention
,
particularly
because
of
the
decline
of
other
diseases
.
Patients
with
a
congenital
malformation
syndrome
come
to
the
Child
Neuropsychiatrist
for
various
reasons
,
such
as
:
mental
retardation
of
variable
degree
,
learning
disabilities
,
speech
delay
or
absence
of
speech
,
behaviour
disorders
,
various
neurological
impairment
.
Parents
,
however
,
seem
to
be
mainly
concerned
about
the
prognosis
of
cognitive
and
psychological
aspects
.
We
have
studied
83
patients
with
a
specific
pattern
of
malformations
(
35
affected
by
the
Sotos
syndrome
;
25
by
the
Williams
syndrome
;
9
by
the
Cohen
syndrome
;
8
by
the
Cornelia
De
Lange
syndrome
;
6
by
the
Rubinstein-
Taybi
syndrome
)
and
have
particularly
investigated
their
cognitive
and
psychological
profiles
.
13
/
83
showed
a
normal
cognitive
level
(
9
Sotos
syndrome
;
4
Williams
syndrome
)
,
while
70
/
83
showed
a
cognitive
deficit
ranging
from
mild
-
moderate
(
56
cases
)
to
moderate
-
severe
(
14
cases
)
.
Linguistic
deficits
are
prominent
in
the
Sotos
,
Cornelia
De
Lange
,
and
Rubinstein-
Taybi
patients
,
while
practo-gnosic
deficits
are
frequent
in
the
Williams
and
particularly
in
the
Cohen
syndrome
patients
.
The
personality
structure
is
characterized
by
immaturity
and
anxiety
in
all
but
the
Williams
syndrome
patients
,
where
some
peculiar
neurotic
traits
may
be
observed
.
All
patients
showed
good
communicative
abilities
.
Diseases
Validation
Diseases presenting
"anxiety"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenal incidentaloma
adrenomyeloneuropathy
cadasil
child syndrome
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
junctional epidermolysis bullosa
locked-in syndrome
monosomy 21
oligodontia
oral submucous fibrosis
phenylketonuria
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated