Exploring the support needs of parents of young children with Usher syndrome: A qualitative approach.

Abstract

Abstract Background: Advancements in genetic testing has led to Usher syndrome now being diagnosed at a much earlier ages than in the past. This has created an enormous opportunity to provide early interventions to young children before the onset of vision loss, with the goal of giving families and children the skills and capacity to thrive throughout their lives. Despite these developments, anecdotal reports suggest there are substantial gaps in the services and supports provided to parents of children with Usher syndrome. There is yet to be an empirical investigation into what these support needs are. To address this gap, the current study investigated the support needs of parents and carers of children with Usher syndrome Type 1 when their child was aged 0 to 5 years. Method: Purposive sampling was used, and six semi-structured interviews were conducted with parents of children with Usher syndrome, Type 1. Data was analysed using reflexive thematic analysis. Results: Four key support need themes were identified, regarding informal supports, formal supports, formal information, and practical supports. Conclusions: Findings provide rich information for relevant support groups, policy makers, individual healthcare professionals, and professional governing bodies regarding the education of stakeholders and development and implementation of best-practice treatment guidelines.