Lai Jun Hei Jeremy, Ireland Penelope, Nguyen Daphne, Woodbury Ashley, Pacey Verity
Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, Australia.
Queensland Paediatric Rehabilitation Service, Queensland Children's Hospital, South Brisbane, QLD, Australia.
Orphanet J Rare Dis. 2025 Mar 5;20(1):105. doi: 10.1186/s13023-025-03630-6.
Skeletal dysplasias are rare disorders affecting bone growth and development that impact functional performance. In Australia, the National Disability Insurance Scheme (NDIS) was rolled out in 2016 to support individuals with disabilities access reasonable and necessary supports to promote independence and quality of life. Anecdotally, Australians with skeletal dysplasias report challenges with accessing and using the NDIS but this has not previously been reported in the literature. Therefore, this study aims to explore the use and experience of NDIS for Australians with skeletal dysplasias.
This is a cross-sectional, mixed-methods study. Eligible participants included adults and children (represented by their parents) with skeletal dysplasias, irrespective of NDIS access. Participants completed an online survey, the Functional Independence Measure (FIM), or WeeFIM for paediatric participants, and semi-structured interviews exploring their NDIS access, use, and experience. Survey responses and FIM/WeeFIM results were analysed using descriptive statistics. Grounded theory approach and inductive thematic analysis was performed on qualitative data.
Of the 14 participants (10 adults, 4 parents), nine (64%) had NDIS access. Six (66.7%) participants with access reported to be satisfied with their NDIS experience, two (22.2%) extremely satisfied, and one (11.1%) neutral. FIM (median 115.5/126, range 104-125) and WeeFIM (median 95.5/126, range 61-124) demonstrated all participants utilised assistance and/or equipment in daily activities. Three key themes identified through interviews: (1) Consistent, process-driven barriers, (2) Inconsistent, person-driven facilitators, and (3) Impact of NDIS.
Despite all participants demonstrating a need for assistance to achieve functional independence, experience and success in accessing the NDIS were varied. Both positive and negative impacts were reported when accessing, or attempting to access the NDIS. To promote more equal and equitable NDIS access for individuals with skeletal dysplasias, NDIS and condition-specific knowledge is recommended for all stakeholders. Finally, further evaluation is needed to ensure future NDIS eligibility changes provide access to those who are potentially eligible but currently rejected.
骨骼发育不良是影响骨骼生长和发育的罕见疾病，会影响功能表现。在澳大利亚，国家残疾保险计划（NDIS）于2016年推出，以支持残疾人士获得合理且必要的支持，从而促进其独立性和生活质量。据传闻，患有骨骼发育不良的澳大利亚人在获取和使用NDIS方面存在困难，但此前文献中尚未有相关报道。因此，本研究旨在探讨骨骼发育不良的澳大利亚人使用NDIS的情况及体验。
这是一项横断面混合方法研究。符合条件的参与者包括患有骨骼发育不良的成人和儿童（由其父母代表），无论其是否有权使用NDIS。参与者完成了一项在线调查、功能独立性测量（FIM）或针对儿科参与者的小儿功能独立性测量（WeeFIM），以及探索其NDIS获取、使用和体验的半结构化访谈。使用描述性统计分析调查回复和FIM/WeeFIM结果。对定性数据采用扎根理论方法和归纳主题分析。
在14名参与者（10名成人，4名家长）中，9人（64%）有权使用NDIS。6名（66.7%）有权使用的参与者表示对其NDIS体验感到满意，2人（22.2%）极其满意，1人（11.1%）持中立态度。FIM（中位数115.5/126，范围104 - 125）和WeeFIM（中位数95.5/126，范围61 - 124）表明所有参与者在日常活动中都使用了辅助和/或设备。通过访谈确定了三个关键主题：（1）持续的、流程驱动的障碍，（2）不一致的、个人驱动的促进因素，以及（3）NDIS的影响。
尽管所有参与者都表明需要获得帮助以实现功能独立，但在获取NDIS方面的体验和成功程度各不相同。在获取或尝试获取NDIS时，既有积极影响也有消极影响的报告。为了促进骨骼发育不良患者更平等地获取NDIS，建议所有利益相关者了解NDIS及特定疾病知识。最后，需要进一步评估以确保未来NDIS资格变更能让那些可能符合资格但目前被拒绝的人获得资格。
