Lived experience of Silver-Russell syndrome: Implications for management during childhood and into adulthood

Ballard, Lisa M.; Jenkinson, Elizabeth; Byrne, Christopher. D; Child, Jenny. C; Davies, Justin. H; Inskip, Hazel; Lokulo-Sodipe, Oluwakemi; Mackay, Deborah J.G; Wakeling, Emma. L; Temple, I. Karen; Fenwick, Angela

Abstract

© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2019. All rights reserved. No commercial use is permitted unless otherwise expressly granted. 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.

• Journal Article Type: Article
• Acceptance Date: Jun 3, 2018
• Publication Date: Jan 1, 2019
• Deposit Date: Jun 11, 2018
• Publicly Available Date: Jul 2, 2018
• Journal: Archives of Disease in Childhood
• Print ISSN: 0003-9888
• Electronic ISSN: 1468-2044
• Publisher: BMJ Publishing Group
• Peer Reviewed: Peer Reviewed
• Volume: 104
• Issue: 1
• Pages: 76-82
• DOI: https://doi.org/10.1136/archdischild-2018-314952
• Keywords: Russell-Silver, appearance, psychology, visible difference, growth, health, qualitative
• Public URL: https://uwe-repository.worktribe.com/output/867331
• Publisher URL: https://doi.org/10.1136/archdischild-2018-314952
• Additional Information: Additional Information : This is the accepted version of the article published in Archives of Disease in Childhood. the final version can be found at https://doi.org/10.1136/archdischild-2018-314952
• Contract Date: Jun 11, 2018