Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Is child intelligence associated with parent and sibling intelligence in individuals with developmental disorders? An investigation in youth with 22q11.2 deletion (velo-cardio-facial) syndrome.
[22q11.2 deletion syndrome]
Children
with
22
q
11
.
2
deletion
syndrome
(
22
q
11
DS
)
,
a
copy-number
variation
(
CNV
)
genetic
disorder
,
demonstrate
a
great
deal
of
variability
in
IQ
scores
and
are
at
particular
risk
for
cognitive
difficulties
,
with
up
to
45
%
experiencing
intellectual
disability
.
This
study
explored
the
IQ
relationship
between
individuals
with
22
q
11
DS
,
their
parents
and
their
siblings
.
Participants
included
individuals
with
22
q
11
DS
,
unaffected
siblings
and
community
controls
,
who
participated
in
a
longitudinal
study
of
22
q
11
DS
.
Significant
associations
between
proband
and
relative
(
parent
,
sibling
)
IQ
scores
were
found
.
Results
suggest
that
the
cognitive
functioning
of
first
-degree
relatives
could
be
a
useful
marker
of
general
genetic
background
and
/
or
environmental
effects
,
and
can
explain
some
of
the
large
phenotypic
variability
in
22
q
11
DS
.
These
findings
underscore
the
importance
of
including
siblings
and
parents
in
studies
of
22
q
11
DS
whenever
possible
.
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