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Experiences of adolescents living with Silver-Russell syndrome
  1. Lisa Marie Ballard1,2,
  2. Elizabeth Jenkinson3,
  3. Christopher D Byrne4,5,
  4. Jenny C Child6,
  5. Hazel Inskip7,8,
  6. Oluwakemi Lokulo-Sodipe2,9,
  7. Deborah J G Mackay10,
  8. Emma L Wakeling11,
  9. Justin Huw Davies12,
  10. I Karen Temple2,10,
  11. Angela Fenwick1
  1. 1Clinical Ethics & Law, Faculty of Medicine, University of Southampton, Southampton, UK
  2. 2Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  3. 3Faculty of Health and Applied Sciences, University of the West of England, Bristol, UK
  4. 4Nutrition and Metabolism Unit, University of Southampton, Southampton, UK
  5. 5Southampton National Institute for Health Research, Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  6. 6Child Growth Foundation, Sutton Coldfield, UK
  7. 7MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK
  8. 8NIHR Southampton Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  9. 9Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK
  10. 10Faculty of Medicine, University of Southampton, Southampton, UK
  11. 11North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
  12. 12Department of Endocrinology, Southampton Children's Hospital, Southampton University Hospitals NHS Trust, Southampton, UK
  1. Correspondence to Dr Lisa Marie Ballard, Faculty of Medicine, Clinical Ethics & Law, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK; l.ballard{at}soton.ac.uk

Abstract

Objective The psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by growth failure and short stature in adulthood, has been explored in adults; however, there are no accounts of contemporary lived experience in adolescents. Such data could inform current healthcare guidance and transition to adult services. We aimed to explore the lived experience of adolescents with SRS.

Design/setting/patients In-depth, semi-structured interviews were conducted between January 2015 and October 2016 with a sample of eight adolescents aged 13–18 (five girls) with genetically confirmed SRS from the UK. Qualitative interviews were transcribed and coded to identify similarities and differences using thematic analysis; codes were then grouped to form overarching themes.

Results We identified four themes from the interview data: (1) the psychosocial challenges of feeling and looking different; (2) pain, disability and fatigue; (3) anticipated stigma; and (4) building resilience and acceptance. Despite adolescents accepting SRS in their lives, they described ongoing psychosocial challenges and anticipated greater problems to come, such as stigma from prospective employers.

Conclusions Adolescents with SRS may experience psychosocial difficulties from as young as 10 years old related to feeling and looking different; pain, disability and fatigue; anticipated stigma; and future challenges around employment. We discuss these findings in relation to recommendations for the care of adolescents with SRS to prepare them for adult life.

  • qualitative research
  • growth
  • adolescent health
  • psychology
  • genetics

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Footnotes

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  • Funding This paper presents independent research funded by the NIHR under its Research for Patient Benefit (RfPB) Programme (Grant Reference Number 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 NIHR and UK Medical Research Council (the latter for her salary) during the conduct of the study. OL-S reports grants from the NIHR during the conduct of the study.

  • Patient consent for publication Not required.

  • Ethics approval Ethical approval for the study was granted by the NHS Research Ethics Committee South Central – Hampshire B (REC reference: 13/SC/0630).

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

  • Data availability statement No data are available. We are still using unpublished data to write more papers after which we will look into storing the transcripts on the UK data archive.

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