Rare Diseases Symptoms Automatic Extraction
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Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
complex
congenital
malformation
produced
by
a
loss
of
genomic
material
at
the
locus
4
p
16
.
3
.
In
addition
to
its
dysmorphic
features
,
the
deletion
produces
a
range
of
intellectual
disability
(
ID
)
.
Many
clinical
aspects
of
WHS
are
well-characterized
;
however
,
the
cognitive
-
behavioral
characteristics
have
been
rarely
examined
in
a
systematic
fashion
.
The
purpose
of
our
study
was
to
examine
the
cognitive
-
behavioral
features
of
WHS
and
to
compare
them
to
children
with
other
subtelomeric
deletions
that
also
produce
ID
.
We
recruited
45
children
with
subtelomeric
deletions
and
examined
their
cognitive
-
behavioral
abilities
using
a
neuropsychological
assessment
battery
composed
of
standardized
instruments
.
Nineteen
children
were
diagnosed
with
WHS
and
26
children
with
one
of
three
other
subtelomeric
deletions-
11
q
25
(
Jacobsen
syndrome
)
,
deletion
2
q
37
,
and
inversion
duplication
deletion
8
p
21
-
23
.
We
found
children
with
WHS
to
be
more
severely
impacted
cognitively
than
children
from
any
of
the
other
groups
.
Their
overall
adaptive
behavior
was
lower
as
well
.
However
,
children
with
WHS
exhibit
strengths
in
socialization
skills
comparable
to
the
levels
attained
by
the
other
groups
we
assessed
.
Importantly
,
the
proportion
of
children
with
WHS
with
autism
or
autistic-like
features
is
significantly
lower
than
the
rates
of
autism
found
in
the
other
subtelomeric
disorders
we
examined
.
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