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[Quality of life in children, adolescents, and young adults with achondroplasia.]
[achondroplasia]
Compared
to
research
on
short
-statured
adults
,
quality
of
life
(
QoL
)
of
children
has
been
rarely
studied
.
One
reason
for
this
might
be
the
lack
of
appropriate
disease-
specific
questionnaires
.
The
aim
of
this
study
was
to
analyse
the
quality
of
life
in
a
sample
of
short
-statured
children
with
achondroplasia
,
using
generic
and
disease-
specific
instruments
.
In
addition
,
a
comparison
of
patient
and
population
norms
is
presented
.
The
sample
included
children
(
8
-
28
Â
years
)
with
achondroplasia
and
parents
of
participating
children
(
8
-
17
Â
years
)
.
Quality
of
life
was
analyzed
with
the
KIDSCREEN
,
the
DISABKIDS
and
the
disease-
specific
Quality
of
Life
in
Short
Stature
Youth
(
QoLISSY
)
questionnaire
.
In
addition
group
differences
according
to
clinical
and
sociodemographic
data
were
analyzed
within
the
sample
and
compared
to
available
KIDSCREEN
representative
population
data
.
The
physical
QoL
was
rated
poorly
in
this
sample
of
short
-statured
patients
,
while
the
emotional
QoL
was
rated
more
favorably
.
Compared
to
the
KIDSCREEN
population
norm
,
parents
of
children
with
achondroplasia
rate
the
QoL
lower
.
The
QoLISSY
questionnaire
is
a
reliable
tool
to
assess
the
subjective
wellbeing
of
patients
with
skeletal
dysplasia
.
The
instrument
can
now
be
used
clinically
as
a
screening
for
patient
wellbeing
,
as
an
outcome
criterion
in
clinical
research
and
as
a
psychosocial
indicator
in
orthopedic
cohort
studies
.
Diseases
Validation
Diseases presenting
"short-statured adults"
symptom
achondroplasia
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