2008 Barcelona - European Society of Human Genetics

EMPAG Plenary Lectures
Service and Medical Genetics Research Group, CMMC NHS Trust and University
of Manchester, Manchester, United Kingdom.
We report the results of a qualitative study of the psychosocial impact
of adrenoleukodystrophy (ALD) on female carriers . ALD is an X-linked
metabolic disorder with extreme variability in phenotype, including the
risk of symptoms in female heterozygotes . Carrier testing based on
biochemical assay is unreliable, but accurate mutation based testing
has been available in the UK since 1999 .
Eighteen women with a confirmed ALD gene mutation were interviewed,
and the transcripts analysed using the constant comparison
method . The impact of the test result often correlated with the timing of
the test, with less impact described by those who had requested testing
in the mid teens, before reproduction, and more traumatic responses
recalled by women who had testing at the same time as other emotional
events, such as pregnancy . For the majority of women, carrier
status had an ongoing impact, including feeling different and frequent
intrusive thoughts . Women who had female relatives with symptoms,
but were asymptomatic themselves, expressed anxiety about the risk
of symptoms developing, against a perceived lack of medical understanding
and treatment options .
These findings add to the broader literature on psychosocial impact of
X-linked carrier status, and contribute new evidence that the implications
for female carriers extend beyond reproduction . Genetic counselling
should include discussion of the potential impact on self-image as
well as living with the uncertainty of late onset manifestations in an
increasing number of X-linked conditions where this is an issue .
EPL6.2
the marital relationship and psychological wellbeing in patients
with myotonic Dystrophy
R. Timman1 , A. Rotteveel2 , A. Wintzen1 , A. Tibben2 ;
1 2 Neurology, Leiden, The Netherlands, Human and Clinical Genetics, Leiden,
The Netherlands.
Introduction: Myotonic dystrophy (MD) is characterised by progressive
muscular weakness and myotonia . Other organs are involved as well,
including the brain, implying, among others, mental slowness and lack
of initiative, and causing problems in daily life both for patients and
their spouses . Some couples seem to deal with these problems satisfactorily
while others experience great trouble .
Objectives: to describe the relationship of severity of MD, marital satisfaction
and psychological well-being in MD-patients and their partners
.
Methods: 69 MD-couples were interviewed regarding the influence of
MD on their marital relationship, and they filled out questionnaires on
severity of MD, anxiety and depression (HADS), hopelessness (BHS),
and general psychological health (GHQ-12) .
Results: For patients, the need for help was associated with a worse
view on the future, a worse general well-being, more anxiety and more
depression . For their partners, a lack of initiative was associated with
a worse general well-being and more anxiety . Marital satisfaction was
associated with a better view on the future for patients, and a better
general well being, less anxiety and less depression in partners . It is
remarkable that no less than 40 % of the patients and, particularly,
female partners had BHS scores suggestive of clinically relevant depression
.
Conclusion: Severity of MD places a heavy burden on patients and,
especially, on female partners . Marital satisfaction is a strong predictor
of a better well-being, both for patients and partners, but more so for
the latter .
EPL6.3
Living with NF1: the persectives of young people
K. F. May 1 , R. A. Collier 2 , L. Kerzin-Storrar 3 ;
1 West Midlands Regional Clinical Genetics Service, Birmingham, United Kingdom,
2 Nottingham Regional Clinical Genetics Service, Nottingham, United Kingdom,
3 North West Regional Genetics Service, Manchester, United Kingdom.
Neurofibromatosis type 1 (NF1) is a genetic condition of variable phenotype
and progression, with several features (including learning difficulties
and cosmetic effects) which may occur during childhood and
adolescence . Previous psychosocial research on the effects on young
people has largely been based on reports from parents or retrospective
reports of affected adults on their childhoods .
This qualitative, exploratory study was conducted by two research-
ers and involved semi-structured interviews with fourteen adolescents
(eight males and six females) aged 16-20 years . Analysis of the interview
transcripts was performed using the constant comparative methodology
.
Overall, both male and female participants reported that they had
coped well with being affected by NF1, and although some identified
that they felt ‘isolated’ or ‘different’ to others, this had usually not prevented
them from ‘getting on’ with life . Some of the older participants
felt they had learned to cope with NF1 better over time, although male
participants frequently commented upon uncertainties regarding future
progression .
The main areas of importance to both male and female participants
were the challenges of talking to others about NF1, impact on education,
developing friendships, relationships with parents, reproductive
issues and concerns about the future . Cosmetic aspects of NF1 and
employment concerns appeared more important to female participants
.
While further studies are required to confirm and expand these initial
findings, this study adds insight into the experiences and views of affected
young people .
EPL6.4
Quality of life in hypertrophic cardiomyopathy mutation carriers
I. Christiaans 1 , I. M. van Langen 1 , E. Birnie 2 , G. J. Bonsel 2 , A. A. M. Wilde 3 , E.
M. A. Smets 1,4 ;
1 Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The
Netherlands, 2 Institute of Health Policy and Management, Erasmus Medical
Centre, Rotterdam, The Netherlands, 3 Department of Cardiology, Academic
Medical Centre, Amsterdam, The Netherlands, 4 Department of Medical Psychology,
Academic Medical Centre, Amsterdam, The Netherlands.
Background: Hypertrophic cardiomyopathy (HCM) is a common autosomal
dominant heart disease associated with heart failure and
sudden cardiac death (SCD) . Quality of life (QoL) was found to be
impaired in symptomatic HCM patients but has never been assessed
in mutation carriers, with or without manifest HCM .
Methods: From approached HCM mutation carriers, 89% (n=212)
completed a questionnaire . QoL was assessed using the Short Form
36 Health Survey (SF-36) and the Hospital Anxiety and Depression
Scale (HADS) and compared with reported QoL-data of HCM patients
and the general Dutch population . Demographic, clinical and illness
perception related variables were evaluated as predictors of QoL .
Results: HCM carriers’ QoL did not differ from the Dutch population .
Carriers with HCM had lower QoL scores than carriers without HCM,
but higher scores than previously reported in HCM patients . Surprisingly,
carriers without HCM scored significantly better than the general
population on several QoL subscales . Best predictors of impaired
physical QoL were: having symptoms (β=5.4, p=0.001) and stronger
belief in serious consequences (β=4.2, p