Journal Article

Experiences of adolescents living with Silver-Russell syndrome

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

2021

Overview

ObjectiveThe 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/patientsIn-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.ResultsWe 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.ConclusionsAdolescents 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.

• Publisher: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health,BMJ Publishing Group LTD
• Subject: Adaptation, Psychological / Adolescence / Adolescent / adolescent health / Adolescents / Adults / Adverse childhood experiences / Bullying / Child & adolescent mental health / Child development / Coding / Disability / Disability Evaluation / Dwarfism - psychology / Emotions / Fatigue / Fatigue - diagnosis / Fatigue - etiology / Female / Genetic Disorders / Genetics / growth / Growth hormones / Health Personnel / Humans / Interviews / Interviews as Topic / Male / Medical personnel / Original research / Pain / Pain - diagnosis / Pain - etiology / Parents / Parents & parenting / Pediatrics / psychology / Qualitative Research / R&D / Recruitment / Research & development / Research and Development / Resilience (Psychology) / Resilience, Psychological / Silver-Russell Syndrome - diagnosis / Silver-Russell Syndrome - psychology / Social Stigma / Social Support Groups / Support groups / Teenagers