21 April, 2024
A research study recently published in Orphanet Journal of Rare Diseases, “Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis” (L.Johansen et al, March 2024), aimed to investigate the support needs of parents of children with Usher syndrome Type 1 when their child was aged 0 to 5 years.
Parents of children with Usher syndrome Type 1 interviewed in this study reported extensive support needs across a variety of areas: peers, support group organisations, and formal services. Parents reported both psychological, practical, and informational needs. Some support needs were immediate, such as peer-support during the diagnostic process, whilst others related to the potential trajectory of their child’s condition, such as reassurance regarding their child’s future quality-of-life.
Key themes of the study
Four key themes were identified as being central to the support needs of parents of children with Usher syndrome aged 0 to 5 years.
- Social Needs referred to parents’ need for various sources of social support
- Informational Needs described the lack of information parents received regarding Usher syndrome from treating professionals
- Practical Needs included supports needed to assist parents in managing the day-to-day tasks of caring for a child with a disability, and
- Emotional Needs represented the emotional support (both formal and informal) that parents needed to be a positive support to their child.
Summary
This study examined the support needs of parents of children with Usher syndrome Type 1 during the first five years of their child’s life. Six mothers expressed significant support needs across various areas, including social, informational, practical, and emotional support. However, these needs often went unmet. Parents desired connection and support from peers and the Usher syndrome community, both individually and in group settings, but lacked access to an Australian support group for families of children with Usher syndrome during this crucial period. This lack of peer support hindered their ability to obtain practical information and reassurance about their child’s future.
Furthermore, parents expressed a need for comprehensive and accurate information throughout the diagnostic and management stages, including guidance on clinical pathways and access to appropriate healthcare professionals. However, they felt that their informational needs were not adequately addressed, reflecting broader challenges in the rare disease literature where parents often possess more knowledge about their child’s condition than healthcare professionals.
Practical supports such as respite, flexible employment, and financial assistance were also identified as crucial by parents. Despite recognizing the importance of respite for self-care and flexible employment to provide optimal care for their child, many parents struggled to access these resources, leading to financial and psychosocial consequences.
Lastly, emotional support emerged as a paramount need for parents, particularly in processing grief and concerns about their child’s future. While some received emotional support from friends and family, many expressed a need for formal psychological support, which was often difficult to access due to a lack of professionals with expertise in addressing the emotional needs of parents of children with rare diseases.
Need for improved knowledge of health professionals
This study emphasises the importance of improving knowledge about Usher syndrome among medical and allied health professionals.
- It highlights the need for understanding the syndrome’s onset, symptoms, progression, long-term outcomes, and treatment options.
- With earlier diagnosis becoming more common, there are opportunities for early intervention, such as vestibular rehabilitation therapy or orientation and mobility training, before vision loss occurs.
- However, without up-to-date knowledge, professionals may not appreciate the significance of early intervention or know where to refer parents for help.
The study suggests developing best practice guidelines to ensure consistent and evidence-based care for children with Usher syndrome, along with providing professional development and educational resources for health professionals. Furthermore, it underscores the importance of integrating disease-specific support groups into the healthcare system to better support families and facilitate referrals. Financial challenges often hinder the establishment and maintenance of these groups, so clearer funding pathways are needed.
Additionally, the study advocates for the introduction of case coordinators to alleviate the burden on parents of children with Usher syndrome. Although the value of case coordination is recognised, its implementation as a standard of care remains unclear. Addressing these systemic issues is crucial for supporting families affected by rare diseases like Usher syndrome and ensuring they receive comprehensive and coordinated care.
Conclusion
This study highlights the multifaceted support needs of parents of children with Usher syndrome Type 1 and underscores the importance of addressing these needs through integrated support services, comprehensive information provision, and improved access to healthcare professionals with expertise in rare diseases.
https://retinaaustralia.com.au/new-research-support-needs-of-australian-parents-of-young-children-with-usher-syndrome/
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