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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
"anxiety"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenal incidentaloma
adrenomyeloneuropathy
cadasil
child syndrome
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
junctional epidermolysis bullosa
locked-in syndrome
monosomy 21
oligodontia
oral submucous fibrosis
phenylketonuria
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated