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Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: comparing questionnaire results with in-depth interviews. Rotterdam/Leiden Genetics Workgroup.
[hereditary cerebral hemorrhage with amyloidosis]
In
50
%
risk
carriers
for
Huntington
disease
(
n
=
41
)
,
hereditary
cerebral
hemorrhage
with
amyloidosis
Dutch
-
type
(
n
=
9
)
familial
adenomatous
polyposis
coli
(
n
=
45
)
and
hereditary
breast
and
ovarian
cancer
(
n
=
24
)
,
pretest
intrusion
and
avoidance
(
Impact
of
Event
Scale
)
,
anxiety
and
depression
(
Hospital
Anxiety
and
Depression
Scale
)
,
feelings
of
hopelessness
(
Beck
Hopelessness
Scale
)
,
and
psychological
complaints
(
Symptom
Checklist
)
were
assessed
to
determine
their
psychological
well-being
.
The
manner
of
discussing
the
genetic
disorder
,
the
test
,
and
its
implications
during
a
semistructured
interview
(
reflecting
on
one
's
emotions
without
getting
carried
away
or
dismissing
or
minimizing
the
subject
)
was
judged
in
terms
of
coherence
.
Participants
at
risk
for
neurodegenerative
disorders
had
higher
anxiety
and
depression
scores
and
more
psychological
complaints
than
did
those
at
risk
for
cancer
syndromes
.
Those
reporting
high
intrusion
/
high
avoidance
had
higher
anxiety
and
depression
scores
and
more
psychological
complaints
than
did
those
reporting
low
intrusion
/
low
avoidance
.
However
,
the
scoring
of
the
interview
showed
that
participants
reporting
high
intrusion
/
high
avoidance
were
more
reflective
about
their
emotions
without
getting
carried
away
or
dismissing
the
subject
(
e
.
g
.
,
more
coherent
)
than
those
reporting
low
intrusion
/
low
avoidance
.
This
result
suggests
that
participants
with
higher
stress
scores
may
be
actively
dealing
with
the
emotional
implications
of
the
test
,
whereas
those
with
low
stress
scores
may
(
as
yet
)
be
unable
to
face
these
implications
.
It
is
important
to
identify
the
strategy
of
coping
with
threat
to
provide
suitable
counseling
and
necessary
guidance
.
However
,
long
-term
follow-up
is
needed
to
learn
the
consequences
of
a
denial
coping
strategy
for
those
participating
in
a
genetic
testing
program
.
Diseases
Validation
Diseases presenting
"low intrusion/low"
symptom
hereditary cerebral hemorrhage with amyloidosis
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