Copy the page URI to the clipboard
Elphick, Camilla; Yuill, Nicola; Waite, Jane; Davies, Alison and Jones, Wendy (2024). Parents' experiences of a WSS diagnosis for their child. OSF.
DOI: https://doi.org/10.17605/OSF.IO/MZV6K
Abstract
Wiedemann-Steiner syndrome (WSS) was identified as an autosomal dominant genetic disorder in 2012 (Jones et al., 2012). By 2022, approximately 250 individuals were identified with the syndrome worldwide (Sheppard & Quintero-Rivera, 2022). Individuals with WSS have a characteristic physical appearance, including long eyelashes, poor muscle tone, and a petite stature (Sheppard & Quintero-Rivera, 2022); physical issues such as feeding and digestive problems and pain (Jones, 2018); and characteristics such as social drive, preferential attachment, and emotional volatility (Ng et al., 2023a; 2023b; Yuill et al, under review). Parents have different needs according to their child’s specific genetic diagnosis (Pearson et al., 2018), but diagnosis of WSS is complex, many clinicians are not aware of WSS, and/or diagnostic testing is unavailable or inconclusive (e.g. screening tests during pregnancy). As such, families report being given incorrect or broader diagnoses (Ng et al. 2023b). A diagnosis is important for parents of children with rare diseases or syndromes for prognosis, treatment/intervention, screening, and acceptance (Lewis at al., 2010). Unfortunately, these parents often experience extended diagnostic delays that can affect their mental health (Jones et al., 2014) and drive them to seek outside sources of information and support (Rhoades, Scarpa & Salley, 2007). This study aims to fill the gap in knowledge about WSS by exploring experiences of parents of WSS children throughout the diagnosis process (from birth until the point of interview). We interviewed 25 parents who were recruited via snowball sampling among parents associated with the WSS Foundation (n.d.). We aim to conduct Reflexive Thematic Analysis (Braun & Clarke, 2006, 2022) on the interviews using NVivo 14. We anticipate that the analysis will provide insight to clinicians supporting families of children with WSS about how to minimise distress during the entire diagnosis process, setting them up for more positive engagement with clinicians and therapists in the future.
Plain Language Summary
Wiedemann-Steiner syndrome (WSS) was identified as a genetic disorder in 2012. By 2022, approximately 250 individuals were identified with the syndrome worldwide but it is now estimated that there are approximately 200,000-300,000 individuals with WSS globally. Individuals often have long eyelashes, poor muscle tone, a petite stature, issues with feeding, digestion and pain, social drive, attachment to a primary carer, and emotional volatility. Parents often face difficulty getting a diagnosis of WSS, as many clinicians are not aware of WSS and diagnostic testing is unavailable. A diagnosis is important for parents of children with rare diseases or syndromes to help them get the support they need. This study aims to understand experiences of parents of WSS children throughout the diagnosis process to inform clinicians about how to minimise distress during the diagnosis and provide with appropriate support. We interviewed 25 parents associated with the WSS Foundation. We aim to conduct Reflexive Thematic Analysis on the interviews to discover themes parents talk about when describing their diagnostic journeys.