Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis

• Published in: Orphanet journal of rare diseases Vol. 19; no. 1; p. 129
• Main Authors: Johansen, L, O'Hare, F, Shepard, E R, Ayton, L N, Pelenstov, L J, Kearns, L S, Galvin, K L
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 21.03.2024; BioMed Central; BMC
• Subjects: Advertising; Age; Analysis; Beliefs, opinions and attitudes; Care and treatment; Caregivers; Children; Children & youth; Cochlear implants; Congenital diseases; Demographic aspects; Disabled children; Disease burden; Drug therapy; Emotions; Families & family life; Family; Genetic screening; Health aspects; Hearing loss; Interview study; Medical personnel; Medical research; Medicine, Experimental; Parent and child; Parents; Parents & parenting; Professionals; Rare disease; Rare diseases; Social aspects; Social interactions; Social networks; Social support; Support groups; Support needs; Usher syndrome; Usher's syndrome; Visual impairment; Australia; Interview study; Support needs; Disease burden; Rare disease; Usher syndrome; Parents
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-024-03125-w

Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite these developments, anecdotal reports suggest there are substantial gaps in the services and supports provided to parents of children with Usher syndrome. The current study investigated the support needs of parents of children with Usher syndrome Type 1 when their child was aged 0 to 5 years. Purposive sampling was used, and six semi-structured interviews were conducted with Australian parents of children with Usher syndrome, Type 1. Data was analysed using modified reflexive thematic analysis. Four key themes were identified as being central to the support needs of parents of children with Usher syndrome aged 0 to 5 years. (1) Social Needs referred to parents' need for various sources of social support, (2) Informational Needs described the lack of information parents received regarding Usher syndrome from treating professionals, (3) Practical Needs included supports needed to assist parents in managing the day-to-day tasks of caring for a child with a disability, and (4) Emotional Needs represented the emotional support (both formal and informal) that parents needed to be a positive support to their child. Findings provide rich information for relevant support groups, policy makers, individual healthcare professionals, and professional governing bodies regarding the education of stakeholders and the development and implementation of best-practice treatment guidelines.