(2017) Falling short: The psychosocial impact of living with Russell-Silver syndrome. DHealthPsych

214 Pages·2017·5.01 MB·English

Falling short: The psychosocial impact of living with Russell-
Silver syndrome.

Lisa Marie Hodges

A thesis submitted in partial fulfillment of the requirements of the University of the West
of England, Bristol for the degree of Professional Doctorate in Health Psychology

This research was carried out in collaboration with University Hospital Southampton NHS
Foundation Trust

Faculty of Health and Applied Sciences, University of the West of England, Bristol
December 2016
“For a few seconds Oskar saw through Eli's eyes. And what he saw was... himself. Only
much better, more handsome, stronger than what he thought of himself. Seen with love.”

- John Ajvide Lindqvist (2005) Let the Right One In

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Thesis introduction and systematic review
This thesis forms part of the research competency, one of five competencies, required for
the fulfillment of a professional doctorate in health psychology. The research competency
had two elements, the systematic review and an empirical study including a reflective
chapter. The introductory chapter of the empirical study is usually based upon the
systematic review.

The empirical study explored the lived experience of the rare genetic condition Russell-
Silver syndrome. Through in-depth, semi-structured interviews, and thematic analysis,
what it is like to live with this syndrome was elucidated. The systematic review was titled
‘Increasing the uptake of stop smoking support in secondary care: A systematic review’
and through narrative synthesis aimed to determine the most effective method of
increasing the uptake of stop smoking support by smokers in secondary care.

When planning the systematic review, I intended to base my empirical study on the
findings. Working as a smoking cessation advisor for Solent NHS Trust, I was ideally placed
to conduct this research. But after some consideration I decided to broaden my
experience beyond smoking cessation and looked for a different research opportunity. I
was fortunate enough to find and be offered a new position in University Hospital
Southampton NHS Foundation Trust with a team researching Russell-Silver syndrome. As
my systematic review does not inform my empirical study I have included it in appendix
16 and have reviewed the literature for Russell-Silver syndrome and related areas in the
introduction chapter of this thesis.

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Table of contents
Abstract ................................................................................................................................. 7
Acknowledgements ............................................................................................................... 8
1.0 Introduction .................................................................................................................... 9
1.1 Russell-Silver syndrome .................................................................................................. 9
Table 1. Clinical features of Russell-Silver syndrome .................................................................. 10
1.2 Treatment...................................................................................................................... 10
1.3 Living with short stature ............................................................................................... 11
1.4 Achondroplasia, Turner syndrome and Constitutional growth delay .......................... 13
1.5 Visible Difference and appearance-related concerns ................................................... 17
1.6 Common Sense Model of self-regulation of health and illness
Figure 1. The five domains of illness representations (Leventhal et al., 2003). .......................... 77
1.7 Conclusion ..................................................................................................................... 21
1.8 Aim ................................................................................................................................ 22
1.9 Research questions.................................................................................................... 22
2.0 Methodology ................................................................................................................. 23
Table 2: Ontologies and epistemologies in psychology (adapted from Braun and Clarke
(2013)) ................................................................................................................................. 24
2.1 Qualitative methodology .............................................................................................. 25
2.2 Data generation ............................................................................................................ 26
2.3 Method of analysis ........................................................................................................ 26
Figure 2. Key stages of Braun and Clarke’s TA analysis (2006, 2013) .......................................... 28
2.4 Researcher influence on data generation and analysis ................................................ 29
3.0 Method .......................................................................................................................... 31
3.1 Participants ................................................................................................................... 31
Table 3. Demographic information .............................................................................................. 31
3.2 Recruitment strategy .................................................................................................... 32
Figure 3. Diagram of recruitment ................................................................................................ 33
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3.3 Interview schedule ........................................................................................................ 33
3.4 Procedure ...................................................................................................................... 34
3.4.1 Data generation .................................................................................................................. 34
3.4.2 Consent ....................................................................................................................................
3.4.3 Transcription/management of data ................................................................................... 35
3.5 Data analysis.................................................................................................................. 36
3.6 Ethical issues ................................................................................................................. 37
3.6.1 Confidentiality .................................................................................................................... 37
3.6.2 Ethical dilemmas ................................................................................................................. 37
3.6.3 Debriefing ........................................................................................................................... 35
3.6.4 Researcher safety ............................................................................................................... 38
3.6.5 General ethics ..................................................................................................................... 38
3.7 Quality in qualitative research ...................................................................................... 38
Table 4. Eight “Big-Tent” Criteria for Excellent Qualitative Research (Tracy, 2010). .................. 40
4.0 Findings ......................................................................................................................... 42
Table 5. Participant age range, height and treatment. ............................................................... 42
Figure 4. What is it like to live with RSS? A conceptual map of themes and sub-themes. ......... 43
4.1 “It’s not just all about height” ....................................................................................... 43
Table 6. Characteristics of RSS that had the biggest impact on participants and unprompted
appearance-related concerns. ..................................................................................................... 44
Partici
4.1.1 Summary ............................................................................................................................. 49
4.2 Everyone’s comparing, everyone’s judging .................................................................. 50
4.2.1 Summary ............................................................................................................................. 62
4.3 ‘Mayor of the friend zone’ ............................................................................................ 62
4.3.1 Summary ............................................................................................................................. 70
5.0 Discussion ...................................................................................................................... 71
5.1 Key discussion points from findings .............................................................................. 72
5.1.1 Adolescence was a difficult time ........................................................................................ 72
5.1.2 “You don’t have Russell-Silver anymore; it’s only a childhood condition” ........................ 75
5.1.3 A mismatch between healthcare provision and patient need ........................................... 79
5.1.4 What patients, families and health professional need to know about living with RSS ...... 81
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5.2 Recommendations ........................................................................................................ 83
5.2.1 Psychosocial issues and concerns other than height ..................................................... 83
5.2.2 Psychosocial interventions ................................................................................................. 84
Figure 5. Challenges faced by people with RSS in childhood, adolescence and early adulthood
with recommendations for when psychological intervention could be most useful. ................. 88
5.2.3 Transition between child and adult healthcare .................................................................. 89
5.2.4 What can non-specialist health professionals offer? ......................................................... 89
5.3 Strengths and limitations .............................................................................................. 90
5.4 Future directions ........................................................................................................... 92
5.5 Conclusion ................................................................................................................. 93
6.0 References ..................................................................................................................... 94
7.0 Appendices .................................................................................................................. 102
Appendix 1 – Research diary extract ......................................................................................... 102
Appendix 2 – Cover letter .......................................................................................................... 109
Appendix 3 – Participant information sheet ............................................................................. 110
Appendix 4 – Interview schedule .............................................................................................. 114
Appendix 5 – Interview schedule tracked changes .................................................................. 116
Appendix 6 – Development of the thematic map ..................................................................... 119
Appendix 7 – Consent form ....................................................................................................... 121
Appendix 8 – Example transcript ............................................................................................... 122
Appendix 9 – Buddy system for researcher safety .................................................................... 146
Appendix 10 – Letters confirming ethical approval (NRES and UWE) ...................................... 150
Appendix 11 – Reflection on consent ........................................................................................ 159
Appendix 12 – Reflective chapter .............................................................................................. 160
Appendix 13 – Dissemination of research ................................................................................. 163
Appendix 14 – Steering group presentations ............................................................................ 177
Appendix 15 – Record of supervision and meetings ................................................................. 182
Appendix 16 – Systematic review ‘Increasing the uptake of stop smoking support in secondary
care: A systematic review’ ......................................................................................................... 187

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Abstract

We do not know what it means to live with Russell-Silver syndrome (RSS), as currently
there is a dearth of literature exploring the lived experience of this rare genetic condition
characterised by pre and postnatal growth retardation. Discovering how this syndrome
affects the lived experience will provide valuable information for better healthcare
provision and aid families in making difficult treatment decisions. In this qualitative study,
in-depth semi-structured interviews were used with 15 participants (6 female). Using
thematic analysis, three themes were identified: “It’s not just all about height”,
‘Resilience - threat and preservation’, and “mayor of the friend zone”. These themes
describe participants’ struggles with varied psychosocial, appearance and body image
related concerns. The key findings were: participants experienced appearance-related
concerns that surpassed a concern about height; adolescence was a particularly difficult
time; and there was a mismatch between patient need and existing healthcare provision.
Two main recommendations were made: Firstly, psychosocial evaluation and
interventions to improve self-esteem, self-confidence, negative body image, and social
interactions during early adolescence could ameliorate psychological distress. And
secondly, a conflation of the 2016 expert consensus statement, which summarised
recommendations for the management of patients with RSS as well as for diagnosis and
investigation, and the results from the present study is needed to inform a care pathway
recommending psychosocial assessment and that continues into adulthood.
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Acknowledgements

First and foremost, I would like to say a huge thank you to all the participants who shared
their experiences with me. Secondly, I would to thank my supervisors - Angela and Liz -
who formed the best supervisory team I could have hoped for. You have encouraged me,
filled me with confidence, and, without you this would have been a much harder journey.
Thirdly, I would like to thank Aaron who has given me a much-needed distraction from
my studies and reminds me that there is more to life than work. Fourthly, I would like to
thank my family: Mum, Dad, Pesh, John, and Donna. You have always supported and
encouraged me in all my endeavours and have been there no matter what. Fifthly, I want
to thank my ‘study-buddy’ Nisha, without whom this would have been a lonely journey.
And finally, I want to say thank you to the 2013 professional doctorate in health
psychology cohort; it was a pleasure studying with you and I wish you all the best!

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1.0 Introduction
This qualitative study was nested in a larger study, which aimed to ascertain the long-
term health outcomes for people with Russell-Silver syndrome and to establish whether
growth hormone therapy was effective in increasing height. The larger study recruited 34
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participants, and the participants in my study were recruited from this group.
1.1 Russell-Silver syndrome
Russell-Silver syndrome (RSS), also known as Silver-Russell syndrome, is a rare genetic
condition caused by chromosomal problems (Binder et al., 2011). It is characterised by
slow growth in the womb leading to poor post-natal growth, short stature in adulthood,
triangular facial appearance, asymmetry, feeding difficulties (Wakeling, 2011), low muscle
mass and poor muscle function (Schweizer et al., 2008) The prevalence of RSS is not easily
determined as making a clinical diagnosis is difficult due to ill-defined features that vary in
severity (Christoforidis et al., 2005, Wakeling, 2011). However, the published incidence of
RSS ranges from 1:3,000 to 1:100,000 around the world (Price et al., 1999), with males
and females are equally affected (Binder et al., 2011). Currently there are two known
molecular abnormalities that cause RSS: a loss of DNA methylation at the H19 locus
causes 60% of cases (this epigenetic mutation causes a reduction in a growth-promoting
factor called IGF2); while maternal uniparental disomy of chromosome 7 (MatUPD7, the
inheritance of both chromosome 7s from the mother with no contribution from the
father) causes 5%-10% of cases (Netchine et al., 2007). The remaining patients have
clinical features but an unknown molecular cause (Wakeling, 2011). Table 1 summarises
the clinical characteristics of RSS and the prevalence of each characteristic.

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I made the decision to write in the first person. Writing in the first person engages the reader and brings them closer to teh
author and the voice of the participants (Gilgun, 2005). This also serves to instil my ownership of the research, which is of
particular importance as it was part of a wider study.
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Table 1. Clinical features of Russell-Silver syndrome.
Short Stature Children with RSS often show normal growth throughout childhood,
but typically no catch-up growth, resulting in a final height -4.2 SD
below the mean in adulthood and an average height of 140cm (4ft
7in) in women and 151cm (4ft 11in) in men (Binder et al., 2011 ).
Asymmetry Asymmetry can affect the body, face and/or limbs. Prevalence varies
from about one third upwards (Abraham et al., 2004, Price et al.,
1999, Wakeling, 2011 , Wakeling et al., 2010 ).
Wakeling et al. (2010) found facial asymmetry in 37% of patients.
Learning In a sample of 50 children and adults Price et al. (1999) found that,
Disabilities those of school age and above, 37% (14) had received a statement
of special educational needs, which was similar to the prevalence
found by Lai et al. (1994). Patients with MatUPD7 are more likely to
have mild learning disabilities than patients with H19 (Wakeling,
2011).
Delayed Wakeling et al. (2010) described global developmental delay (gross
Development and fine motor skills, speech and language, social and emotional
skills and cognitive skills) in 34% of their sample, but said that severe
delay was uncommon.
Feeding Problems Feeding problems in children with RSS generally stop around the age
of six (Blissett et al., 2001) and affect 77% of children (Christoforidis
et al., 2005). There is no documented account describing the impact
of these early problems affecting adults.
Cleft palate This is described as a common characteristic (Saal, 1993).
1.2 Treatment
Families often have to make the difficult decision to start their young child on growth
hormone therapy which is used to improve final height of children with growth failure
(Bryant et al., 2007, Wakeling, 2011). Although this treatment does not appear to have
any notable physical side effects (The MAGIC Foundation, 2016), it does involve an
injection under the skin six to seven times a week for several years, until final height is
reached (Bryant et al., 2007). Although growth hormone therapy is the main treatment
for RSS, treatment options for other characteristics of RSS include speech therapy for oral
motor dysfunction (Price et al., 1999), operations to correct finger curving (Lahiri and
Lester, 2009) or overcrowded teeth (Price et al., 1999), limb-lengthening surgery to
correct asymmetry (Abraham et al., 2004), dieticians (Wakeling, 2011), and feeding tubes
into the nose or stomach for feeding difficulties (Christoforidis et al., 2005). Families of
children with RSS would be able to make more informed decisions about treatment if
more was known about how this syndrome affects the lived experience throughout a
person’s life.
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