Rare Diseases Symptoms Automatic Extraction
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Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile.
[wolf-hirschhorn syndrome]
Few
studies
exist
of
developmental
trajectories
in
children
with
intellectual
disability
,
and
none
for
those
with
subtelomeric
deletions
.
We
compared
developmental
trajectories
of
children
with
Wolf-
Hirschhorn
syndrome
to
other
genetic
disorders
.
We
recruited
106
children
diagnosed
with
fragile
X
,
Williams-
Beuren
syndrome
,
or
Wolf-
Hirschhorn
syndrome
,
assessing
their
intellectual
and
adaptive
behavior
abilities
.
We
retested
61
children
2
years
later
.
We
compared
Time
1
and
Time
2
difference
scores
related
to
genetic
disorder
,
age
,
initial
IQ
,
or
adaptive
behavior
composite
.
Results
show
genetic
disorder
and
initial
IQ
score
were
significant
factors
for
IQ
differences
,
but
only
genetic
disorder
affected
adaptive
behavior
differences
.
Results
suggest
different
gene
-
brain
-behavior
pathways
likely
exist
for
these
genetic
disorders
.
Different
developmental
trajectories
will
influence
the
type
and
intensity
of
intervention
implemented
by
caregivers
.
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