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Experiences of adolescents living with Silver-Russell syndrome

Experiences of adolescents living with Silver-Russell syndrome
Experiences of adolescents living with Silver-Russell syndrome
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.
adolescent health, genetics, growth, psychology, qualitative research
0003-9888
1195-1201
Ballard, Lisa
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Jenkinson, Elizabeth
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Byrne, Christopher
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Child, Jenny
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Inskip, Hazel
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Lokulo-Sodipe, Oluwakemi
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Mackay, Deborah
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Wakeling, Emma
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Davies, Justin
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Temple, Karen
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Fenwick, Angela J
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Ballard, Lisa
48a7b1af-4d2b-4ec7-8927-84361a3c62a9
Jenkinson, Elizabeth
b1997162-8fa8-4d72-9b3a-a4b52e2dbef4
Byrne, Christopher
1370b997-cead-4229-83a7-53301ed2a43c
Child, Jenny
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Inskip, Hazel
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Lokulo-Sodipe, Oluwakemi
d428f857-0e58-4964-b1f0-136af7432805
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Wakeling, Emma
f7f73171-4d52-41bf-bd6c-61d202b98453
Davies, Justin
9f18fcad-f488-4c72-ac23-c154995443a9
Temple, Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Fenwick, Angela J
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Ballard, Lisa, Jenkinson, Elizabeth, Byrne, Christopher, Child, Jenny, Inskip, Hazel, Lokulo-Sodipe, Oluwakemi, Mackay, Deborah, Wakeling, Emma, Davies, Justin, Temple, Karen and Fenwick, Angela J (2021) Experiences of adolescents living with Silver-Russell syndrome. Archives of Disease in Childhood, 106 (12), 1195-1201, [321376]. (doi:10.1136/archdischild-2020-321376).

Record type: Article

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.

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Accepted/In Press date: 8 March 2021
e-pub ahead of print date: 19 March 2021
Published date: 1 December 2021
Additional Information: Funding Information: Acknowledgements We would like to thank the Child Growth Foundation for its support (http://www.childgrowthf oundation.org/). CDB is funded in part by the Southampton National Institute for Health Research (NIHR) Biomedical Research Centre. Funding Information: 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. Funding Information: 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. Publisher Copyright: © Authors 2021
Keywords: adolescent health, genetics, growth, psychology, qualitative research

Identifiers

Local EPrints ID: 447982
URI: http://eprints.soton.ac.uk/id/eprint/447982
ISSN: 0003-9888
PURE UUID: d43f221e-be1b-44d1-a0c9-326a2a06cb88
ORCID for Lisa Ballard: ORCID iD orcid.org/0000-0003-1017-4322
ORCID for Christopher Byrne: ORCID iD orcid.org/0000-0001-6322-7753
ORCID for Hazel Inskip: ORCID iD orcid.org/0000-0001-8897-1749
ORCID for Oluwakemi Lokulo-Sodipe: ORCID iD orcid.org/0000-0002-8169-3384
ORCID for Deborah Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 29 Mar 2021 16:37
Last modified: 06 Nov 2024 02:48

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Contributors

Author: Lisa Ballard ORCID iD
Author: Elizabeth Jenkinson
Author: Jenny Child
Author: Hazel Inskip ORCID iD
Author: Oluwakemi Lokulo-Sodipe ORCID iD
Author: Deborah Mackay ORCID iD
Author: Emma Wakeling
Author: Justin Davies
Author: Karen Temple ORCID iD
Author: Angela J Fenwick

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