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

ObjectiveThere 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...

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Bibliographic Details
Published in:Archives of disease in childhood 2019-01, Vol.104 (1), p.76-82
Main Authors: Ballard, Lisa Marie, Jenkinson, Elizabeth, Byrne, Christopher D, Child, Jenny C, Davies, Justin Huw, Inskip, Hazel, Lokulo-Sodipe, Oluwakemi, Mackay, Deborah J G, Wakeling, Emma L, Temple, I Karen, Fenwick, Angela
Format: Article
Language:English
Subjects:
Adaptation, Psychological - physiology
Adjustment
Adolescents
Adult
Body Height
Child
Children
Coding
Disability Evaluation
Dwarfism - etiology
Dwarfism - physiopathology
Dwarfism - psychology
Families & family life
Family Relationship
Fatigue
Fatigue - diagnosis
Fatigue - etiology
Female
Females
Genetic disorders
Genetics
Humans
Hypoglycemia
Interviews
Life span
Male
Medical personnel
Needs Assessment
Pain
Pain - diagnosis
Pain - etiology
Patients
Psychology
Qualitative research
Quality of life
R&D
Research & development
Research and Development
Researchers
Self esteem
Self image
Sex Factors
Silver-Russell Syndrome - diagnosis
Silver-Russell Syndrome - epidemiology
Silver-Russell Syndrome - physiopathology
Silver-Russell Syndrome - psychology
Social Support Groups
Teenagers
United Kingdom - epidemiology
Young adults
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Summary:ObjectiveThere 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/patientsIn-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.ResultsFour 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.ConclusionsChallenges 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.
ISSN:0003-9888
1468-2044
DOI:10.1136/archdischild-2018-314952