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Family burden in inherited ichthyosis: creation of a specific questionnaire.
[lamellar ichthyosis]
The
concept
of
individual
burden
,
associated
with
disease
,
has
been
introduced
recently
to
determine
the
"
disability
"
caused
by
the
pathology
in
the
broadest
sense
of
the
word
(
psychological
,
social
,
economic
,
physical
)
.
Inherited
ichthyosis
belong
to
a
large
heterogeneous
group
of
Mendelian
Disorders
of
Cornification
.
Skin
symptoms
have
a
major
impact
on
patients
'
Quality
of
Life
but
little
is
known
about
the
burden
of
the
disease
on
the
families
of
patients
.
To
develop
and
validate
a
specific
burden
questionnaire
for
the
families
of
patients
affected
by
ichthyosis
.
Two
steps
were
required
.
First
,
the
creation
of
the
questionnaire
which
followed
a
strict
methodological
process
involving
a
multidisciplinary
team
and
families
.
Secondarily
,
the
validation
of
the
questionnaire
,
including
the
assessment
of
its
reliability
,
external
validity
,
reproducibility
and
sensitivity
,
was
carried
out
on
a
population
of
patients
affected
by
autosomal
recessive
congenital
ichthyosis
.
A
population
of
parents
of
patients
affected
by
ichthyosis
was
enrolled
to
answer
the
new
questionnaire
in
association
with
the
Short
Form
Q
12
questionnaire
(
SF-
12
)
and
a
clinical
severity
score
was
filled
for
each
patient
.
Ninety
four
families
were
interviewed
to
construct
the
verbatim
in
order
to
create
the
questionnaire
and
a
cognitive
debriefing
was
realized
.
The
concept
of
burden
could
be
structured
around
five
components
:
"
economic
"
,
"
daily
life
"
,
"
familial
and
personal
relationship
"
,
"
work
"
,
and
"
psychological
impact
"
.
As
a
result
,
"
Family
Burden
Ichthyosis
"
(
FBI
)
reproducible
questionnaire
of
25
items
was
created
.
Forty
two
questionnaires
were
analyzable
for
psychometric
validation
.
Reliability
(
Cronbach
's
alpha
coefficient
 
=
 
0
.
89
)
,
reflected
the
good
homogeneity
of
the
questionnaire
.
The
correlation
between
mental
dimensions
of
the
SF-
12
and
the
FBI
questionnaire
was
statistically
significant
which
confirmed
the
external
validity
.
The
mean
FBI
score
was
71
.
7
 
±
 
18
.
8
and
a
significant
difference
in
the
FBI
score
was
shown
between
two
groups
of
severity
underlining
a
good
sensitivity
of
the
questionnaire
.
The
internal
and
external
validity
of
the
"
FBI
"
questionnaire
was
confirmed
and
it
is
correlated
to
the
severity
of
ichtyosis
.
Ichthyoses
,
and
other
chronic
pathologies
,
are
difficult
to
assess
by
clinical
or
Quality
of
Life
aspects
alone
as
their
impact
can
be
multidimensional
.
"
FBI
"
takes
them
all
into
consideration
in
order
to
explain
every
angle
of
the
handicap
generated
.
Diseases
Validation
Diseases presenting
"skin symptoms"
symptom
cutaneous mastocytosis
erythropoietic protoporphyria
lamellar ichthyosis
omenn syndrome
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