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Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood
  1. Lisa Marie Ballard1,
  2. Elizabeth Jenkinson2,
  3. Christopher D Byrne3,4,
  4. Jenny C Child5,
  5. Justin Huw Davies6,
  6. Hazel Inskip7,8,
  7. Oluwakemi Lokulo-Sodipe9,10,
  8. Deborah J G Mackay11,
  9. Emma L Wakeling12,
  10. I Karen Temple10,13,
  11. Angela Fenwick14
  1. 1Faculty of Medicine, Clinical Ethics and Law, University of Southampton, Southampton, UK
  2. 2Faculty of Health and Applied Sciences, University of the West of England, Bristol, UK
  3. 3Nutrition and Metabolism Unit, University of Southampton, Southampton, UK
  4. 4Southampton National Institute for Health Research, Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  5. 5Membership and Communications, Child Growth Foundation, Sutton Coldfield, UK
  6. 6Department of Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton Children’s Hospital, Southampton, UK
  7. 7MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK
  8. 8NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK
  9. 9Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK
  10. 10Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  11. 11Faculty of Medicine, University of Southampton, Southampton, UK
  12. 12North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK
  13. 13Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK
  14. 14Faculty of Medicine, Clinical Ethics and Law, University of Southampton, Southampton, UK
  1. Correspondence to Dr Lisa Marie Ballard, Faculty of Medicine, Clinical Ethics andLaw, University of Southampton, Southampton General Hospital, Southampton SO166YD, UK ; l.ballard{at}soton.ac.uk

Abstract

Objective There is limited information on the psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by slow growth in utero leading to short stature in adulthood. Such information could aid families in making difficult treatment decisions and guide management strategies for health professionals. We aimed to explore the lived experience of people with SRS across the lifespan.

Design/setting/patients In-depth, semi-structured interviews were conducted between January 2015 and October 2016 with a sample of 15 adults (six women) with genetically confirmed SRS from the UK. Qualitative interviews were transcribed and coded to identify similarities and differences: codes were then grouped to form overarching themes.

Results Four themes were identified from participant accounts: (1) appearance-related concerns extending beyond height; (2) strategies to deal with real and perceived threats; (3) women’s experiences of pain, disability and feeling older than their years; and (4) feeling overlooked in romantic relationships. These themes show that other factors, beyond short stature, affect patient well-being and indicate a mismatch between patient need and healthcare provision.

Conclusions Challenges in SRS during childhood and adolescence were central to the psychosocial impact of SRS, and were not limited to height. These challenges, as well as symptoms such as pain and fatigue for women, have not previously been documented. To help individuals with SRS develop strategies to manage psychosocial issues, we recommend clinicians incorporate psychological services as an integral part of multidisciplinary teams managing individuals with SRS during childhood, adolescence and adulthood.

  • Silver-Russell syndrome
  • qualitative research
  • growth
  • lived experience
  • psychosocial perspective

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Footnotes

  • Funding This paper presents independent research funded by the National Institute for Health Research (NIHR) under its Research for Patient Benefit (RfPB) Programme (Grant Reference No PB-PG-1111-26003) with support from NIHR CRN: Wessex, NIHR Southampton BRC and NIHR Wellcome Trust Southampton Clinical Research Facility. The RfPB grant holders were IKT, JHD, JCC, CDB, AF and HI.

  • Disclaimer The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care.

  • Competing interests JHD has received travel bursaries from Novo Nordisk, SANDOZ, Ferring and Pfizer. HI reports grants from the UK National Institute for Health Research and UK Medical Research Council (the latter for her salary) during the conduct of the study. OLS reports grants from the National Institute of Health Research during the conduct of the study.

  • Ethics approval NHS Research Ethics Committee South Central–Hampshire B (REC reference: 13/SC/0630).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement No additional data are available.

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