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Specific genetic disorders and autism: clinical contribution towards their identification.
[cohen syndrome]
Autism
is
a
heterogeneous
disorder
that
can
reveal
a
specific
genetic
disease
.
This
paper
describes
several
genetic
diseases
consistently
associated
with
autism
(
fragile
X
,
tuberous
sclerosis
,
Angelman
syndrome
,
duplication
of
15
q
11
-
q
13
,
Down
syndrome
,
San
Filippo
syndrome
,
MECP
2
related
disorders
,
phenylketonuria
,
Smith-
Magenis
syndrome
,
22
q
13
deletion
,
adenylosuccinate
lyase
deficiency
,
Cohen
syndrome
,
and
Smith-
Lemli-
Opitz
syndrome
)
and
proposes
a
consensual
and
economic
diagnostic
strategy
to
help
practitioners
to
identify
them
.
A
rigorous
initial
clinical
screening
is
presented
to
avoid
unnecessary
laboratory
and
imaging
studies
.
Regarding
psychiatric
nosography
,
the
concept
of
"
syndromal
autism
"
-
-
autism
associated
with
other
clinical
signs
should
be
promoted
because
it
may
help
to
distinguish
patients
who
warrant
a
multidisciplinary
approach
and
further
investigation
.
Diseases
Validation
Diseases presenting
"several genetic diseases"
symptom
cohen syndrome
neonatal adrenoleukodystrophy
x-linked adrenoleukodystrophy
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