High suicidal ideation in persons testing for Huntington's disease

Article (PDF Available)inActa Neurologica Scandinavica 102(3):150-61 · October 2000with67 Reads
DOI: 10.1034/j.1600-0404.2000.102003150.x · Source: PubMed
This study examined the first participants who registered for the Huntington's disease predictive testing program 1990-1995 in Stockholm, Sweden. A psychosocial investigation was performed to evaluate potential effects of the presymptomatic testing. The results showed no significant differences between 13 gene carriers and 21 noncarriers in pretest attitudes, expectations, general well-being, life satisfaction and lifestyle, the need for support, estimated sense of wellbeing or degree of health. However, both groups showed high suicidal ideation and self-injurious behavior. Noncarriers had a very high frequency of attempted suicide, and both groups had similarly pronounced psychiatric dysfunction. Their relatives also had high frequencies of psychiatric diseases, suicide or suicidal attempts. Most of the participants had a desire to meet a psychologist or a social worker. The need for counseling, using a well designed protocol, and the importance of focusing on suicide risk of participants in predictive testing programs is emphasized.
High suicidal ideation in persons testing for
Huntington's disease
Robins Wahlin T-B, Ba
ckman L, Lundin A, Haegermark A, Winblad B,
Anvret M. High suicidal ideation in persons testing for Huntington's
Acta Neurol Scand 2000: 102: 150±161.
Munksgaard 2000.
This study examined the ®rst participants who registered for the
Huntington's disease predictive testing program 1990±1995 in
Stockholm, Sweden. A psychosocial investigation was performed to
evaluate potential effects of the presymptomatic testing. The results
showed no signi®cant differences between 13 genecarriers and 21
noncarriers in pretest attitudes, expectations, general well-being, life
satisfaction and lifestyle, the need for support, estimated sense of well-
being or degree of health. However, both groups showed high suicidal
ideation and self-injurious behavior. Noncarriers had a very high
frequency of attempted suicide, and both groups had similarly
pronounced psychiatric dysfunction. Their relatives also had high
frequencies of psychiatric diseases, suicide or suicidal attempts. Most of
the participants had a desire to meet a psychologist or a social worker.
The need for counseling, using a well designed protocol, and the
importance of focusing on suicide risk of participants in predictive
testing programs is emphasized.
T.-B. Robins Wahlin
L. Ba
, A. Lundin
A. Haegermark
, B. Winblad
M. Anvret
Stockholm Gerontology Research Center,
Department of Clinical Neuroscience and
Occupational Therapy and Elderly Care Research,
Karolinska Institute, Stockholm;
Department of
Psychology, Uppsala University, Uppsala;
of Clinical Neuroscience Psychiatry and Psychology
Section, and
Departments of Clinical Genetics and
Clinical Neuroscience, Karolinska Hospital, Stockholm,
Key words: Huntington's disease; predictive testing;
suicidal behavior
Tarja-Brita Robins Wahlin, Stockholm Gerontology
Research Center, Box 6401, S-113 82 Stockholm,
Tel.: +46 8 690 58 21
Fax: +46 8 690 59 54
e-mail: Tarja-Brita.Robins.Wahlin@neurotec.ki.se
Accepted for publication May 16, 2000
Huntington's disease (HD) is an autosomal, domi-
nant neurodegenerative disorder characterized by
motor impairment, cognitive decline, personality
change, and increased susceptibility for mental
disorders. Onset typically occurs between 35 and
44 years of age (1), although the range of onset varies
greatly (2). The patient has often already had
children and may have passed the HD gene on to
them. At present, there is no effective treatment for
HD (1, 3, 4). Symptoms progress without remission
until death occurs 15 to 20 years after onset (5).
The discovery of markers for the HD gene in 1983
(6) has enabled the development of predictive testing
programs. Ten years later, a CAG trinucleotide
repeat showing expansion on the HD chromosome
was identi®ed (7), and permitted direct testing of the
mutation associated with HD. Following the ®rst
descriptions of a pilot project in British Columbia on
genetic testing (8, 9), several centers have developed
predictive testing programs for HD. Guidelines for
predictive testing (10) have provided an additional
supplement to psychosocial, ethical, and legal
considerations. These guidelines have often been
modi®ed due to different health care systems and
have thus presented a framework for testing
programs around the world.
There are approximately 600 patients with clinical
HD in Sweden (11) and about 3000 individuals are at
risk of developing the disease (12). All HD families
in Sweden have been registered since the 1950s (13,
14). Demands from families for predictive testing
increased successively when the available linkage
analysis led to the start of the genetic testing
program in Stockholm. Before introduction of
predictive testing in Sweden, an interview study
concerning attitudes towards testing indicated that
60% of persons who were at risk for developing HD
had a generally positive attitude to the predictive test
Acta Neurol Scand 2000: 102: 150±161
Printed in UK. All rights reserved
Munksgaard 2000
ISSN 0001-6314
(15). Similarly, high interest towards the test has
been expressed by about two thirds of at-risk
persons interviewed in other studies (16±22).
However, the actual number of persons who have
undergone predictive testing is considerably lower.
Only 3±5% of the at-risk population have gone
through predictive testing in Sweden during the ®rst
6 years the test has been available (11). Tibben et al.
(23) sought to obtain information on the motives of
those persons who were not enrolled in the program
although they were aware of its existence. They con-
cluded that the non-participants tended to over-
emphasize the negative consequences of the genetic
test, such as depression, fear for HD, and inability to
cope with the results in genecarriers, and depression,
being banned from the family, and guilt feelings in
noncarriers. Hence, society's technological capaci-
ties may have outpaced its understanding of the
psychological consequences of HD (24).
When planning predictive testing programs, there
are three obstacles that complicate the establishment
of such programs. First, clinicians, psychologists,
geneticists, and researchers do not commonly share
knowledge of bene®ts of programs that can be used
in clinical work. Second, relatively large proportions
of the population in Scandinavian countries live in
rural areas, and community-based programs have
met with economic obstacles. Third, cautious atti-
tudes among persons who want to participate and
persons who can offer genetic testing counteract the
genetic services.
Stern & Eldridge (22) found patients with early
HD and their families were often concerned about
mental changes. Folstein et al. (25) noted that HD
patients who were not referred by psychiatric
reasons had a high frequency of psychotic disorders.
They also observed that the clinical state of persons
at risk varies widely. Hence, they recommended
quanti®cation and documentation of psychiatric
symptoms, as it permits classi®cation of clinical
symptoms and has implications for treatment and
research. Further, Lester et al. (26) concluded that
speci®c scores on depression inventories of persons
who attempt suicide might be important in predict-
ing suicidal deaths. Speci®cally, depression, anxiety,
emotional distress, suicidal tendencies, and social
dysfunction grading should be important in pre-
dictive testing of HD. Our participants' psycholo-
gical well being was documented by questionnaires
and in-depth interviews, which indexed different
aspects of psychological and social dysfunction in
the case of catastrophic events.
Baum et al. (24) suggested that by reducing
uncertainty and providing outcome information,
some of the anxiety and stress associated with being
at risk for HD may be reduced. Mutation analysis
provides the individual with news of either being a
genecarrier that is thought to be perceived as bad
news, or a noncarrier, which ought to be perceived as
good news. However, research suggests that this is
not always the case (27±30). Some genecarriers have
the capacity to anticipate and arrange their future
and manage to cope with a genecarrier status,
whereas others experience the new status as a threat
and feel distress facing the future disease (27±31).
Although Sweden has ®ve testing centers at
present, no uni®ed test program has been estab-
lished. Scandinavian countries have not participated
extensively in the international debate on establish-
ing protocols for HD testing centers. This article
describes the predictive testing program in
Stockholm, Sweden. In a prospective study, includ-
ing psychosocial questionnaires and in-depth inter-
views, we assessed the pretest expectations and
attitudes of at-risk individuals who entered our
program. The objective of this study is to describe
the social and demographic characteristics, general
well-being, life satisfaction and life style, the need for
support, estimated sense of well-being and degree of
health, and self-injurious behavior of the ®rst 34
persons who registered in the program during a
5-year period (1990±1995).
Suicidal behavior in HD is well-recognized
(32±36). It is also established that persons with
HD have an increased frequency of psychiatric
dysfunction (4, 37, 38) and elevated social cata-
strophic event rates (17). As a result, it may be
hypothesized that HD genecarriers are also carriers
of psychological vulnerability for psychiatric affec-
tion, given the inevitable stress that HD in families
yields. To test this hypothesis, we compared gene-
carriers and noncarriers in demographic character-
istics, their pretest attitudes and expectations, life
style and life satisfaction, estimated sense of well-
being and degree of health, and with regard to their
thoughts about suicidal behavior.
The signi®cance of this study should be viewed in
light of the fact that genetic screening for other
disorders is becoming increasingly more common
(39±41). Understanding the use of the current
protocol may help to predict individual responses
to stress, coping patterns, and psychological
defenses, as well as foster high standards in various
predictive testing programs for people at risk.
Participants and methods
Genetic counseling for HD at the Department of
Clinical Genetics, Karolinska Hospital, Stockholm,
Sweden, was established in the autumn of 1990. The
®rst participant entered the presymptomatic testing
Predictive testing for Huntington's disease
program in October 1990, and 5 years later 34
candidates had entered the program. The avail-
ability of the test was not announced through any
media, as a restrained policy was applied. Those
candidates who called the clinic were provided with
information regarding HD, the program, and an
initial appointment was given if requested. Our
counseling team consisted of a psychiatrist, a
neurologist, a molecular geneticist, two nurses,
and a psychologist. The linkage analyses were
performed until 1993, when the speci®c genetic
marker, a CAG trinucleotide repeat, was discovered
(7). All persons tested with the linkage analyses
(n=11) were informed in a personal letter about the
new method. These persons were offered a com-
plementary mutation analysis, which con®rmed the
results in those persons who wanted to be reanalyzed
(n=7). Four persons (12%) refrained from mutation
analysis. For the remaining 23 persons (68%),
only the mutation analysis was performed. Hence,
participants in this study are referred to as the
genecarriers (HD+; genecarriers) or noncarriers
(HDx; noncarriers) in the following.
Inclusion criteria
Inclusion criteria for participation in the program
were: A) age over 18 years; B) a 50% risk for HD;
and C) a 25% risk for HD if the parent was dead or if
a parent with 50% risk participated in the program.
The participants were asked to participate in pretest
and posttest counseling, and neurologic and psy-
chiatric examinations to exclude persons who
already had signs and symptoms of the disease.
Genetic counseling program
In the ®rst and second session, we informed
participants about the disease, inclusion criteria,
and the reliability of the test. In addition, a family
history was taken (Fig. 1). After the ®rst contact, a
copy of the pamphlet, ``Huntington's disease'' (42)
was provided. A psychiatrist and a neurologist then
examined participants. Candidates who had signs of
HD were referred to the neurology clinic at the
hospital for follow-up, and did not proceed in the
testing program. In the third psychosocial session,
the baseline data was collected by means of an
extensive assessment.
The results were disclosed only to the participant
and a supporting person. Before the test results were
provided, it was con®rmed once again that the
participant received social support. Telephone
contact was maintained within 2±3 days with
genecarriers. An additional interview at 2 weeks
after the results was applied for the genecarriers to
detect adjustment problems in need of treatment. A
psychosocial investigation was performed to evalu-
ate the reactions to the result given. The genecarriers
and noncarriers were interviewed 2, 6, 12, and 24
months after disclosure of the results. In each
session, formal assessments, using pen and paper,
were completed ®rst, followed by an in-depth
interview, in which participants had the opportunity
of receiving psychological support. Additional
counseling sessions were sometimes required and
offered. The study program was approved by the
Ethics Committee of the Karolinska Hospital.
Rating scales
A background questionnaire comprised questions
about family background and psychiatric and
suicidal history of participants and relatives.
An attitude questionnaire (AQ) involved ques-
tions covering the following areas: at what age did
the participants learn about HD and that they were
at risk, who informed them about HD, reasons for
taking the predictive test, who they would tell if they
were genecarriers, whether they would like to discuss
the results with a support group or a professional
therapist, and attitudes towards testing children and
youth under the age of 18 years.
Risk perception was measured using a visual
analogue scale. Participants were asked to make a
vertical cross on a 150-millimeter long horizontal
line, regarding how sure they felt that they would
get HD. The right side indicated believing not
getting HD (``I am absolutely certain that I will not
develop HD''), the left side indicated a strong belief
in getting the disease (``I am absolutely certain that I
Fig. 1. General schema for the predictive testing program
for Huntington disease at the Department of Clinical
Genetics, Karolinska Hospital, Stockholm.
Robins Wahlin et al.
will develop HD''); hence, a neutral response, was
located in the middle of the scale. Visual analogue
scales are reliable and valid means of quantifying
various psychological constructs (43), including
mood (44) and quality of life (45).
In the instrument Current Well-Being, partici-
pants estimated their sense of well-being during the
last 3 days before their visit by marking a cross on a
150-millimeter long line on a visual analogue scale.
The left side of the line indicated very poor well-
being and the right side indicated excellent well-
being. Participants were then asked about the cause
of the problem which was of most concern as
indicated by the Current Well-Being cross, and
asked to estimate the severity of the problem on a
visual analogue scale.
The General Health Questionnaire-30 (GHQ-30;
46) was used to measure psychological well being, in
particular depression, anxiety, somatic complaints,
and social dysfunction. GHQ-30 is a self-adminis-
tered screening instrument focusing on alterations
in normal psychological function. It assesses varia-
tions between psychological sickness and psycho-
logical health and focuses on breaks in normal
function, rather than upon traits (46). GHQ-30 taps
two major phenomena: inability to carry out one's
normal healthy functions, and the appearance of
new symptoms of distressing nature (46). The scale
involves the following categories: ``less than usual''
(0), ``no more than usual'' (0), ``rather more than
usual'' (1), and ``much more than usual'' (1). Scores
were summed across the 30 items with higher scores
re¯ecting more distress. The validity and reliability
of this scale are well documented (46, 47).
The Beck Depression Inventory (BDI; 48) was
used to measure the intensity of depression. It
assesses affective, cognitive, motivational, and
vegetative symptoms of depression and anxiety-
related disorders (49). BDI is a 21-item question-
naire, and each item consists of four alternative
statements that represent gradations of a given
symptom rated in severity from 0 to 3. Beck et al.
(48) have de®ned the 0±9 range as normal, 10±15
as indicating mild depression, 16±20 as indicating
moderate depression, and a score above 21 rep-
resenting severe depression (range=0±63). The
BDI has been found to possess good psychometric
properties (50±52).
The Self-Injurious Behaviour Questionnaire
(SIBS; 9) was used to evaluate previous and current
levels of suicidal thoughts or attempts, and predic-
tion of future suicidal tendencies. The items assess
the extent of suicidal thoughts as well as quality of
life, and expected coping resources.
The Life Satisfaction Index (LSI; 9, 53) is a rating
scale of satisfaction tapping areas outside of mental
health. LSI indexes eight domains of life experiences
including leisure time, economy, living standards,
work, health, social life, marriage, family life, and
total life satisfaction. The items were scored from
one (very satis®ed) to seven (totally dissatis®ed).
The Life-Styles Assessment (LSA; 9) deals with
the participants' social background, present situa-
tion, and future plans regarding marital status,
degree of satisfaction in relationship, occupation,
and career plans. It provides information regarding
life insurance, smoking, use of nonprescription and
prescription drugs, weight, alcohol consumption,
sleeping habits, visits to health professionals,
hospitalizations, car accidents, and religious af®lia-
tion. Participants were also asked about the extent
to which being at risk has in¯uenced ®nancial
planning and money spending. The AQ, SIBS, LSI,
and LSA were adapted from the Canadian colla-
borative study of predictive testing for HD (9) and
were used as a quick background information
source for the in-depth interview.
Statistical analysis
Data were analyzed using analyses of variance
(ANOVAs), and in those cases in which the data did
not allow this statistical procedure, frequencies and
percentages were calculated.
A total of 95 telephone contacts were registered
between October 1990 and October 1995. Out of 72
at-risk persons who wanted to enter the program, 8
were diagnosed as having HD by neurological
examination and therefore DNA testing was not
necessary. Thirty-four persons were informed about
their status; 13 of these were genecarriers and 21
were noncarriers. The remaining 30 persons were
waiting for their results or did not want to proceed
for the time being. In this study, the results for the
34 persons who were informed about their genetic
status are presented. Subject characteristics are
summarized in Table 1.
The results are presented in the same order as the
rating scales were administered to the participants.
Social and demographic background characteristics
The mean age of the study sample was 36.9 years
(SD=9.26, range=23±57 years), with an equal
number of men and women. Most candidates were
married (47%), or lived in common-law relation-
ships (24%). Only 8 persons were single (24%). Two
candidates in the HD+ group were divorced (see
Predictive testing for Huntington's disease
Table 1). Participants had three siblings pairs; in
each case one turned out to be genecarrier and the
other noncarrier. All other participants were
Approximately two-thirds of the participants
(62%) had children. Twenty-four persons (70%)
reported that they did not wish to have any more
children if they were genecarriers. However, if they
were noncarriers, only 20 persons (59%) would
refrain from having children in the future.
Mean years of education was 11.8 years
(SD=3.05). With regard to occupational status,
the total sample included 18% academics or
professionals, 47% skilled workers, 29% unskilled
workers, and 6% students. No subject was unem-
ployed at the time they entered the program.
Most of the candidates (62%) were members of
the Swedish Church (protestant). One person (3%)
belonged to the free church, and 12 persons (35%)
were unaf®liated. Half of the participants (50%)
reported that they never attended religious meet-
ings, and those who reported religious practice had
an infrequent attendance. Only 2 persons attended
monthly, the rest reported attending church services
occasionally or rarely. The HDx group had a
somewhat higher attendance in church than did the
HD+ group (see Table 1).
Both groups had a very similar psychiatric
background. Thirty-eight percent of the partici-
pants reported having had some form of contact
with the psychiatric care before entering the
program. The noncarriers reported a higher per-
centage of psychiatric diseases among relatives
which were not related to HD, than did the
genecarriers, although this difference was not
signi®cant (P>0.50). As expected, psychiatric
disease of relatives related to HD were high in
both groups; 69.2% in the genecarriers and 85.7% in
the noncarriers. 30.8% of the HD+ group reported
suicide or suicide attempts in the family, whereas
the corresponding ®gure for the HDx group was
14.3% (Table 1).
Learning about HD in the family and risk status
The mean age of the genecarriers when they learned
about HD in the family was 20.8 years (SD=13.3)
and 25.5 (SD=11.6) for the noncarriers. Both
groups learned about their risk status at a mean age
of 26.5 years (SDs=11.4 and 11.1, respectively).
The most common information source regarding
HD was family for the HD+ group (38.5%). For
the HDx group, 14.3% reported family as the
information source. The family informed most
often for both the genecarriers (61.5%) and the
noncarriers (47.6%) the risk status. About one third
of the HD+ group (30.8%) and the HDx group
(33.3%) received their information about HD from
the Karolinska Hospital Huntington's disease team.
Other sources of information were relatives, the
patient organization, and news media (the HD+
group 23.1% and the HDx group 38.1%, respec-
tively). A family doctor or another doctor, who they
had been in contact with, had been the information
source to only 1 genecarrier and 3 noncarriers.
Genetic information was received from a family
doctor (the HD+ group 15.4%, the HDx group
28.6%) and Karolinska Hospital Huntington's
disease team (the HD+ group 15.4%, the HDx
group 14.3%). Only 1 person in each group had
received information about risk status from some
other source.
Table 1. Social and demographic characteristics of participants before predictive
testing for Huntington disease
Variable HD+ (n=13) HDx (n=21)
Mean years of age (range) 36.0 (24±51) 37.4 (23±57)
Mean years of education (range) 12.5 (9±16) 11.4 (8±19)
n (%) n (%)
Male 7 (53.8) 10 (47.6)
Female 6 (46.2) 11 (52.4)
Marital status
Single 3 (23.1) 5 (23.8)
Married/common-law 8 (61.5) 16 (76.2)
Divorced 2 (15.4) 0 (0)
None 4 (30.8) 9 (42.8)
¢One 9 (69.2) 12 (57.2)
Total number of children 21 28
Academic/Professional 3 (23.1) 3 (14.3)
Skilled worker 4 (30.8) 12 (57.1)
Unskilled worker 4 (30.8) 6 (28.6)
Student 2 (15.4) 0 (0)
Swedish Church (Protestant) 7 (53.8) 14 (66.7)
Free Church 1 (7.7) 0 (0)
Unaf®liated 5 (38.5) 7 (33.3)
Religious practice
Yes 5 (38.5) 12 (57.1)
No 8 (61.5) 9 (42.9)
Psychiatric contact
Yes 5 (38.5) 8 (38.1)
No 8 (61.5) 13 (61.9)
Psychiatric diseases of relatives
Yes 1 (7.7) 5 (23.8)
No 11 (84.6) 16 (76.2)
Do not know 1 (7.7) 0 (0)
Psychiatric diseases of relatives; related to HD
Yes 9 (69.2) 18 (85.7)
No 3 (23.1) 3 (14.3)
Do not know 1 (7.7) 0 (0)
Suicide and suicide attempts (relatives)
Yes 4 (30.8) 3 (14.3)
No 8 (61.5) 18 (85.7)
Do not know 1 (7.7) 0 (0)
Robins Wahlin et al.
Reasons for predictive testing for HD
The most important reason for taking the predictive
test was to achieve certainty regarding genetic status
(Table 2). The two other primary reasons were
general planning for the future and for the sake of
the children.
Pretest ideas about sharing the genetic status information with
Ten persons among the genecarriers (76.9%) would
like to discuss their genetic status with their parents,
spouse, children, signi®cant others, and 12 persons
(92.3%) with their siblings. The percentage of the
noncarriers who would inform parents (71.4%),
spouse (90.5%), children (81.0%), and signi®cant
others (71.4%) was also high. Both groups expressed
even higher wishes to inform their siblings about
their genetic status (the HD+ 92.3% and the HDx
Most of the participants (85.3%) had a desire to
meet a psychologist or a social worker. Only 1
person, unfortunately a genecarrier, did not want
contact with these persons. The rest of the
participants were uncertain (11.8%). A support
group was desired by 61.8% of the at-risk
individuals, 20.6% did not want to participate,
and 17.6% did not know if they would want to
discuss their genetic status in a group. There were
no signi®cant differences between the groups for
these wishes (P>0.30).
Opinions about predictive testing of persons under 18 years
Eighty-®ve percent of all participants (HD+ 92.3%,
and HDx 81.0%) felt that persons under 18 years
of age should not be given the opportunity to take
the predictive test against the will of their parents
(see Table 3). The pattern of attitudes was similar in
the genecarrier and noncarrier groups (P>0.20).
The anticipated effects of a genecarrier and noncarrier status
Prior feelings about estimation of the predictive test
outcome were studied with a visual analogue scale
(150 mm long). The HD+ group estimated a mean
of 61.1 mm (SD=26.5) and the HDx group a
mean of 63.2 (SD=25.6). Hence, there was no
difference between the groups, and there was a
tendency in both groups to expect an unfavorable
test outcome.
Estimated sense of well-being
Both groups estimated their Current Well-Being as
moderate (HD+=83.2, SD=44.8; HDx=79.0,
SD=42.6). Problems of highest concern, as well as
the reason for suboptimal well-being for the total
group, were HD (38%), family (23%), employment
and/or studies (18%), other health-related problems
(6%), bad economy (6%), and miscellaneous
problems (9%). The problems which were of
concern were graded as somewhat more severe by
the genecarriers, but this difference was not
statistically reliable (P>0.10).
Table 2. Reasons for predictive testing for Huntington's disease*
HD+ (n=13) HDx (n=21)
Type of reason Frequency (%) Frequency (%)
1 Obtain certainty for genetic status 10 (76.9) 14 (66.7)
2 General planning for the future 5 (38.5) 11 (52.4)
3 For the sake of the children 5 (38.5) 6 (28.6)
4 Manage the present situation better for oneself and family 3 (23.1) 3 (14.3)
5 Emotional reasons 3 (23.1) 2 (9.5)
6 Other personal reasons 3 (23.1) 2 (9.5)
7 Be sure not to have signs or symptoms of HD 2 (15.4) 4 (19.0)
8 Reduce uncertainty for the future 2 (15.4) 2 (9.5)
9 Family planning 1 (7.7) 5 (23.8)
10 Contribute to research 2 (15.4) 1 (4.8)
* All questions were open-ended; hence one to four reasons were usually given.
Table 3. Attitudes of the participants as to whether persons under 18 years of age should be given the opportunity to take the predictive test
HS+ (n 13) HSx (n 21)
Question No. (%) Yes No. (%) No No. (%) Uncertain No. (%) Yes No. (%) No No. (%) Uncertain
If their parents make the decision 0 (0) 12 (92.3) 1 (7.7) 2 (9.5) 17 (81.0) 2 (9.5)
If they decide for themselves 5 (38.5) 7 (53.8) 1 (7.7) 7 (33.3) 12 (57.1) 2 (9.5)
If the parents and the child jointly decide 6 (46.2) 6 (46.2) 1 (7.7) 1 (4.8) 8 (38.1) 0 (0)
Predictive testing for Huntington's disease
Estimated degree of depression and general health
The participants' degree of severity on the BDI and
the GHQ-30 are shown in Table 4. BDI scores
ranged from 1 to 32 (M=7.8, SD=8.2) for the
genecarriers and from 0 to 31 (M=9.1, SD=9.2)
for the noncarriers. GHQ-30 scores ranged from 0
to 19 (M=7.1, SD=7.0) for the genecarriers and
from 0 to 29 (M=8.0, SD=9.3) for the noncarriers.
Group differences were nonsigni®cant for both
scales (P>0.60).
Life satisfaction
As can be seen in Fig. 2, both groups scored very
similarly on the LSI. The mean total score of life
satisfaction was 2.8 for both groups (HD+
SD=1.3, HDx SD=1.5), which placed them
well toward the satis®ed end on the 7-point scale.
On the individual subscales, the variable ``health''
was reported by the HD+ group as marginally
better than the HDx group (P<0.08); group
differences on other subscales fell far short of
signi®cance (P>0.10). Both groups rated their
marriages as the area of life with which they were
most satis®ed. Economy and work was rated as the
least satisfying areas. Both groups reported their
social support network as involving an average of 4
persons (HD+ M=4.3; HDx M=4.3) in an open-
ended question, and they were fairly satis®ed with
the size of the network as assessed by a 6-point
Likert scale.
Self-injurious behaviour
The psychosocial assessments and the in-depth
interview identi®ed 4 participants (2 HD+ and 2
HDx) who were at an immediate suicidal risk at
their arrival, and these persons were referred for
further assessment and treatment. These persons
were advised to wait for the genetic test results and
they entered the program 6 to 12 months later. The
Self-Injurious Behaviours Questionnaire demon-
strated that the suicidal ideation was very high in
both groups (Table 5). Those 6 persons who had
attempted suicide before entering the program also
reported their suicide attempts in the in-depth
One noncarrier considered suicide likely even in
the near future. Hence, 10 persons were referred to
psychotherapy outside the program on the basis of
previous and current psychiatric functioning and
were given additional support during and after the
genetic test.
Patterns of life-style
Both groups estimated that HD had only margin-
ally in¯uenced their ®nancial plans (HD+ M=2.7,
SD 2.1; HDx M=2.2, SD 1.5) on a 7-point Likert
scale (1=not at all, 7=enormously). When asked
about how their rate of spending of money was
in¯uenced by HD, both groups estimated no change
in the amount of money spent or saved (HD+
M=4.1, SD=0.8; HDx M=4.2, SD=0.6). The
majority of the genecarriers (69%) and about half of
the noncarriers (52%) had life insurance prior to
registration in the program. Group differences on
these measures were nonsigni®cant (P>0.30).
About half of the genecarriers (46%) and the
noncarriers (57%) smoked. Most participants
reported that they did not consume alcohol at all
(HD+=71.8%; HDx=61.9%).
Both groups slept on average 7 h (HD+ M=7.2;
HDx M=7.0) per night (range=4 to 9 h). Some
dif®culty in sleeping was reported by 46.2% of the
genecarriers and by 28.6% of the noncarriers. Also,
2 genecarriers (15.4%) and 7 noncarriers (33.3%)
reported moderate to severe dif®culty in sleeping.
Group differences were again nonsigni®cant
The HD+ group had sought medical attention
about 8.8 times/last year, and the HDx group
reported 6.1 visits/year. When examining the
reasons for visits to the doctor there were no
signi®cant differences. However, 3 persons (23.1%)
Table 4. The degree of depression of participants and general health symptoms as
measured by the Beck Depression Inventory and the General Health Questionnaire
before predictive testing for Huntington disease
Normal range
Beck Depression Inventory
HD+ 11 (84.6%) 1 (7.7%) 0 1 (7.7%)
HDx 14 (66.7%) 3 (14.3%) 0 4 (19.0%)
Normal range
General Health Questionnaire
HD+ 7 (53.9%) 6 (46.1%)
HDx 11 (52.4%) 10 (47.6%)
GHQ normal range=
GHQ mild to severe=5±30.
Fig. 2. The Life Satisfaction Index for eight domains of life
experiences and total life satisfaction of PHD+ and PHDx
groups. Error bars represent standard errors of the mean.
Robins Wahlin et al.
of the genecarriers and 2 persons (9.5%) of the
noncarriers reported psychiatric problems as a
reason for the visits. Another major reason for
medical attention were psychosomatic complaints
(HD+=23.1%; HDx=33.3%). No persons
reported depression as a reason for visiting the
doctor. One genecarrier (7.7%) and 5 (23.8%)
noncarriers had been hospitalized during the last
12 months (P>0.10).
Both groups used at least one medication
regularly. Two genecarriers (15.4%) and 4 non-
carriers (19.0%) used nonprescription medicines
regularly. Neuroleptic medication was used by 1
HD+ and 1 HDx person. One genecarrier (7.7%)
and 3 noncarriers (14.3%), used tranquilizer/seda-
tive medication regularly (P>0.50), and 1 HD+
and HDx person used antidepressive medication.
The objectives of the present study were to a)
describe a genetic testing program designed speci-
®cally for HD, and b) assess the pretest expectations
and attitudes of at-risk individuals who entered this
program. In addition, this study examined whether
HD genecarriers have an increased vulnerability for
psychiatric affection compared to noncarriers, given
the high frequency of psychiatric dysfunction,
suicidal behaviour, and inevitable stress that HD
in families yields. This was accomplished by
comparing HD genecarriers and noncarriers
across multiple domains of psychosocial factors,
including suicidal ideation.
The analyses did not reveal any signi®cant
differences in social and demographic character-
istics of the HD+ and HDx groups, and the
groups did not differ in any of the assessed pretest
attitudes, expectations, general well-being, life
satisfaction or style, need for support, estimated
sense of well-being, or degree of health.
Although there were few differences between the
two groups in suicidal ideation and behaviour, the
HD+ group exhibited a signi®cantly higher rate of
suicidal thoughts within the past year than the
HDx group, despite the fact that the genecarriers
reported being fairly satis®ed with their own health
and indicated even marginally better health satis-
faction than did the noncarriers in the LSI.
Importantly, 6 of our 34 participants (17.6%) had
attempted suicide before entering the predictive
testing program and 5 of them were given HDx
status and only 1 of them was HD+. One
noncarrier had been hospitalized in a psychiatric
ward for over a year in connection with 3 serious
suicide attempts and another noncarrier had taken
drug overdoses 9 times. The remaining noncarriers
and 1 genecarrier had tried to kill themselves either
by overdose or by cutting their wrists. However, the
4 participants (2 HD+ and 2 HDx) who were
judged to be at an immediate suicidal risk had not
attempted suicide before entering the program.
These results suggest that psychosocial determi-
nants rather than genetic factors may in¯uence at-
risk persons' patterns of suicidal behaviour.
Both groups showed considerably higher tenden-
cies for suicidal behaviour and psychiatric dysfunc-
tion than the normal population in Sweden (54). A
survey of a normal population aged 20±67 years
(n=8800) in the county of Stockholm, revealed that
19.7% had thought about suicide, and that 7% had
thought about suicide within the last 12 months
(54). In our total group that ranged between 23±57
years of age and came from the same area, 35% had
considered suicide and 26% had done so within the
last year. The attempted suicide rate for our cohort
was 17.6%. This is 5 times higher than the 3.5%
documented for the general population between
20±67 years in Stockholm. This is in line with the
frequency of suicide in HD as compared to that of
the general population in USA (35, 36, 55)
indicating markedly elevated suicide rates for the
HD population.
The ®nding that slightly less than half of the total
sample considered suicide if-or-when getting the
Table 5. Number and percentage of participants with suicidal thoughts or tendencies
HD+ (n=13) HDx (n=21)
Variable No. % No. %
I have never thought or attempted to kill myself 5 38.5 7 33.3
I have thought about suicide before I discovered that I was at risk for HD 3 23.1 8 38.1
I have thought about suicide since I have known that I am at risk for HD 5 38.5 8 38.1
I have thought about suicide within the past year 6 46.1* 3 14.3
Suicide has sometimes been a passing thought and/or I have brie¯y considered it 5 38.5 7 33.3
I have had a plan for killing myself and seriously considered carrying it out 2 15.4 2 9.5
I attempted to kill myself 1 7.7 5 23.8
It is likely that I will attempt suicide when I begin developing symptoms of HD 1 7.7* 9 42.8
It is likely that I will attempt suicide when I get middle/advanced stages of HD 3 23.1** 11 52.4
* Pj0.05; ** Pj0.10.
Predictive testing for Huntington's disease
disease is in line with a survey by Wexler (55), in
which around half of the 35 persons at risk for HD
indicated that they would commit suicide if they
became ill. Somewhat lower rates were reported by
Mastromauro et al. (20), Kessler (4), and Bloch et al.
(8) in which, between 11 and 33% of at-risk subjects
would consider ending their life if they would
develop HD.
Farrer (56) pointed out that HD is a slowly
progressing disease and years of searching for signs
of HD may aid in forming suicidal tendencies. Given
that about 11% of attempted suicides later result in
completed suicides, as observed in a general
population study in Sweden (57), it would suggest
that persons in our study sample have a high
possibility of repeating their self-injurious behavior.
The estimated casualty rate would be about 5%, a
®gure that is in line with a study of Beck et al. (58),
who followed 207 patients hospitalized because of
suicidal ideation. Of all their data collected at the
time of the hospitalization, in Beck et al., only the
pessimism item of BDI predicted suicidal rate. In our
study, 76.9% of the genecarriers and 52.4% of the
noncarriers received a value of 1 or 2 on the BDI
pessimism item. Thus, the observation that 61.8% of
the total group felt discouraged about the future
provides further support of high suicidal ideation in
the present sample.
About one third of the subjects reported previous
psychiatric contacts, and well over two thirds had a
close relative with a psychiatric disorder related to
HD. This is consistent with previous ®ndings (4, 17,
25), and may indicate that turbulent historical
background predisposes the individuals at risk for
psychiatric dysfunction and/or suicide attempts
The anticipated outcome of the genetic testing was
pessimistic and estimated risk responses of gene-
carriers and noncarriers indicated that both groups
were inclined to expect getting HD. Both groups
reported moderate scores on the Current Sense of
Well-being Scale during the last 3 days. The
problems of highest concern were HD, family- and
employment-related problems, which ultimately
may re¯ect a fear of HD. Both groups graded the
severity of the problem much higher than the
hypothesized mean, although the genecarriers were
more ``constantly occupied by the problem''. This is
in line with the BDI and GHQ results indicating
anxiety over the forthcoming results of genetic
It is noteworthy that the life satisfaction of both
groups was above the average, despite the high
frequency of self-destructive behaviour. Only in the
domain of economy were the HDx group more
dissatis®ed than the average hypothesized mean.
The participants rated economy and work as least
satisfying and marriage as most satisfying in the
domains of life experience. Both groups reported
that their social support net involved an average of 4
persons and that they were fairly satis®ed with their
social network. Only one person (HD+) reported
that he did not have any external support and he was
referred to psychotherapy according to his wishes.
These results indicate that our sample had better
external sources of support than corresponding at-
risk groups surveyed in northern California, USA,
where 5 to 11% reported that they had no external
source for support (4, 17). Moreover, our data con-
®rm a very open attitude toward utilizing profess-
ional help. About 85% would consider seeing a
psychologist or social worker, and a support group
was desired by 62%. Thus, the data suggest that
those at-risk persons who approached the genetic
test have a reasonable level of support for coping
with the outcome.
Beck et al. (49) argued that, irrespective of
diagnosis, negative expectations and hopelessness
constitute primary features of suicidal intent.
Furthermore, Beck et al. (59) found that increasing
severity of self-reported depression and negative
expectancies about the future were associated with
higher levels of suicidal ideation. Our data indicated
that 26% of the participants reported mild to severe
depression, as measured by BDI, and 47% reported
mild to severe degrees of general health symptoms,
as indicated by the GHQ. Hence, our BDI, GHQ,
and SIBS data support the assumption that
depressive and self-destructive attitudes, thoughts,
tendencies, and wishes are manifest and well
identi®able in persons at risk for HD.
Of the genecarriers 46% and of the noncarriers
48% scored above the normal range on the GHQ-
30, which is a pure state measure of general mental
health. Our intention was to obtain a reasonable
estimate of the participants' own feelings of anxiety
and depression and to identify all potential cases in
the study sample. It could be argued that the
threshold 4/5 is too low, resulting in false positives.
However, the threshold recommended by Goldberg
is even lower (3/4), and thresholds have ranged from
1/2 to 19/20 in 31 GHQ-30 validity studies (see 46).
Folstein et al. (25) used the cut-off point 4/5 in their
study of HD patients and this threshold seems to be
the most commonly used. We sought to identify all
distressed persons in our sample, because the high
risk of suicide and catastrophic reactions. Hence, a
high GHQ score was taken as an indication for our
counselor to focus the in-depth interview, in order
to be able to follow the person carefully and to
prepare the participant for possible adverse effects
of the test result.
Robins Wahlin et al.
How an individual manages to cope with the new
genetic status varies with the availability of coping
strategies, how well the individual is prepared, and
personal factors such as optimism, beliefs, and
social support (24). Thus, the coping outcome from
participating in predictive testing is dependent on
individual differences in various characteristics
before entering the program. It has been suggested
that the ®rst cohorts of at-risk persons participating
in predictive testing programs have been self-
selected individuals (8, 43, 59, 60), with good self-
concepts, good psychological functioning, and
capacity to handle the news. In our study, the
relatively high frequency of suicidal thoughts and
tendencies postponed 4 persons' genetic testing
(12%) due to active suicide risk. Hence, the need for
assessment and counseling of participants in pre-
dictive testing programs are of utmost importance
and follow-up of at-risk persons is highly moti-
vated. Bloch et al. (27) highlighted that preparation
for receiving results is a psychologically complex
process that should not be rushed. They pointed out
that a stringent protocol of precounseling makes it
possible to identify those participants who require
further assessment before proceeding in the pre-
dictive testing program. In comparison with the ®rst
51 predictive testing candidates in Canada (8),
where no candidate had high immediate suicidal
risk, our participants appeared as a psychologically
more vulnerable sample. A less arduous protocol or
less counseling could not account for this difference
because of the similarity of the testing programs.
Huggins et al. (31) observed that approximately
10% of the persons with a decreased risk result may
also be vulnerable to adverse effects of test results,
and require professional intervention and ongoing
counseling. As pointed out by Codori & Brandt (28)
and Robins Wahlin et al. (30), at-risk persons
should be cautioned that testing can create, rather
than alleviate, problems. Our results indicating a
high frequency of psychiatric affection, especially
for noncarriers, suggest that a careful follow-up is
justi®ed not only for genecarriers but also for
noncarriers (29, 61).
The major limitation of this study was the small
number of participants providing data. This limits
the generalizability, and it is questionable whether
similar results would be obtained with a less
intensive protocol. Morover, as suggested by
Tibben et al. (62), the disadvantages of self-report
data constitute an important limitation. Another
potential source of bias is the fact that our ®rst
participants may have applied for predictive testing
because of the aggravating and unstable circum-
stances of their lives, and thus constituted a self-
selected group.
This study has allowed us to gather baseline
psychosocial information on the ®rst persons that
entered the predictive testing program for HD in
Sweden. We have highlighted the high suicidal
tendencies and the potential for adverse psychiatric
outcomes of the HD at-risk cohort. Although
several pilot screening programs have documented
their ®ndings (e.g. 8, 62), there are still programs
with no requirements or guidelines for predictive
testing, other than those speci®ed by certain
individuals or committees at institutions (56). The
results of this study support Farrer's (56) statement
that we could witness a rise in suicide and
catastrophic event rates in HD genecarriers, if
appropriate programs are not implemented. The
asymptomatic HD population, with knowledge of
their gene status, is a constantly growing group, and
the suicidal tendencies of this population should be
seen as cries for help to ®nd reasons to live (38).
Given the psychosocial complexities of genetic
testing, psychologists can and should play a central
role in predictive testing programs.
The present data provide further support to the
notion that psychosocial determinants rather than
genetic factors in¯uence at-risk persons' patterns of
behaviour. High degrees of vulnerability for psy-
chiatric affection were seen in both the HD+ and
HDx groups. Our results suggest that a thorough
follow-up of persons entering the predictive testing
program is warranted in both genecarriers and
noncarriers. The psychosocial distress and the risk
for maladaptive functioning in both groups is high
and special attention should be given to persons
who show instability already when entering the
program. Apart from these persons participating in
a research program, extra psychological support,
both before informing the genetic test result and
afterwards, are recommended. More research with
larger samples and longitudinal assessment is
needed in order to be able to focus on catastrophic
events and suicidal behaviour in genecarriers and
noncarriers alike. We have described a functional
predictive testing program and recommend strongly
that this type of professional involvement becomes
mandatory in the setting of genetic testing.
The research was supported by grants from the Swedish
Association of Neurologically disabled (NHR), Swedish
Society for Medical Research and Demensfo
rbundet to
Tarja-Brita Robins Wahlin. We are indebted to U. O
for assistance in the psychiatric examinations and B.J. Small
for valuable comments on the manuscript. We thank all the
subjects for their participation in this study. Part of this
work was presented at the 5th European Meeting
Psychosocial Aspects of Genetics, 1996.
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Predictive testing for Huntington's disease
    • "Thus, the sample may have included both genetic pre-symptomatic individuals and healthy relatives without genetic HD heredity. Nevertheless, note that biological (Markianos et al., 2008), clinical (Dorsey, 2012; Robins Wahlin et al., 2000), and cognitive (Giordani et al., 1995; Kargieman et al., 2014) factors of familial vulnerability have been reported irrespective of whether the first-degree relatives were HD mutation carriers or not. For instance, healthy individuals at risk for HD (Giordani et al., 1995), regardless of their HD gene status, may exhibit low performance in some neuropsychological measures. "
    [Show abstract] [Hide abstract] ABSTRACT: Schadenfreude –pleasure at others’ misfortunes– has been systematically related to ventral striatum activity. This brain region is affected early in individuals with manifest and premanifest Huntington’s disease (HD). However, the experience of schadenfreude has not yet been investigated in HD. In this study, 21 manifest HD patients, 19 first-degree asymptomatic relatives, and 23 healthy controls performed an experimental task designed to trigger schadenfreude, envy (another social emotion acting as an affective control condition), and control situations. Both HD patients and first-degree relatives experienced lower schadenfreude in response to others’ misfortunes, with no group differences in ratings of envy and control conditions. These results offer unprecedented evidence of a highly specific impairment in reward processing, extending previous reports in manifest and pre-manifest HD individuals. Moreover, these findings suggest that early striatal impairments may be related to reduced feelings of schadenfreude. In sum, our work contributes to the understanding of emotional impairments in early stages of HD, while shedding light on their neural correlates.
    Article · Jul 2016
    • "Thus, it may have included both genetic pre-symptomatic individuals and healthy relatives without HD genetic heredity. Nevertheless, biological (Markianos et al., 2008), clinical (Dorsey, 2012; Robins Wahlin et al., 2000), and cognitive (Giordani et al., 1995; Kargieman et al., 2014) factors of familial vulnerability have been reported irrespective of whether the first-degree relatives are HD mutation carriers or not. Moreover, it has been shown (Giordani et al., 1995 ) that healthy individuals at risk for HD, regardless of their HD gene status, have a low performance in some neuropsychological measures compared to normal controls. "
    Full-text · Article · Oct 2015 · Journal of Genetic Counseling
    • "259–270). The study by Wahlin et al. (2000) reported no significant differences between 13 gene mutation positive and 21 mutation negative participants in pretest attitudes, but both groups showed high suicidal ideation and selfinjurious behavior and contrary to expectations, mutation negative participants had a very high frequency of attempted suicide (Robins Wahlin et al. 2000). Long term follow up studies testing for health related outcomes post predictive genetic testing in HD population reported no catastrophic events including major depressive disorder or psychiatric hospitalization , declared suicide attempt or suicide (Dufrasne et al. 2011; Paulsen et al. 2013). "
    [Show abstract] [Hide abstract] ABSTRACT: Inclusion Body Myopathy associated with Paget's disease of bone and Fronto-temporal Dementia, also known as multisystem proteinopathy is an autosomal dominant, late onset neurodegenerative disorder caused by mutations in Valosin containing protein (VCP) gene. This study aimed to assess uptake and decision making for predictive genetic testing and the impact on psychological well-being. Individuals who had participated in the gene discovery study with a 50 % a priori risk of inheriting VCP disease were sent a letter of invitation offering genetic counseling and testing and were also invited to participate in this psychosocial study. A total of 102 individuals received an invitation and 33 individuals participated in genetic counseling and testing (32.3 %) with 29 completing baseline questionnaires. Twenty completed the follow-up post-test Hospital Anxiety and Depression Scale questionnaire including 13 of the 18 who had tested positive. Mean risk perception at baseline was 50.1 %. Reasons for testing included planning for the future, relieving uncertainty, informing children and satisfying curiosity. At baseline, one quarter of the participants had high levels of anxiety. However, scores were normal one year following testing. In this small cohort, one third of individuals at 50 % risk chose pre-symptomatic testing. Although one quarter of those choosing testing had high anxiety at baseline, this was not evident at follow-up.
    Full-text · Article · Feb 2015
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