Centre for Health Equity, Melbourne School Population and Global Health, The University of Melbourne, Level 4, 207 Bouverie St, Melbourne, VIC, 3010, Australia.
Neurodevelopment and Disability, Royal Children's Hospital, 50 Flemington Rd, Parkville, 3052, Australia.
Orphanet J Rare Dis. 2021 Dec 14;16(1):512. doi: 10.1186/s13023-021-02140-5.
While classified as a rare condition, a congenital disorder of the corpus callosum (DCC) is one of the most commonly identified brain anomalies in newborns, occurring in 1:4000 live births. Advances in imaging techniques have improved early diagnosis for children, yet adults with a DCC-who may present with extreme heterogeneity in cause and impact-often experience challenges in receiving a definitive diagnosis and accessing appropriate services and supports. To date, the dearth of evidence documenting the lived experiences of adults with DCC has made it difficult to determine adequate policy and service responses. This exploratory research aims to address this gap by presenting the first qualitative examination of the experiences and impact of complete or partial agenesis of the corpus callosum among adults.
Eight face-to-face interviews were conducted with Australian adults, aged 23-72 years, to explore their lived experience. Data was collected in four Australian states from June to August 2017. Thematic and interpretive analyses were employed to analyse data. Three emergent themes described difficulties related to: (1) reactions to the diagnosis; (2) access to supports and key life domains, and (3) identifying as an adult. Interview analysis described lived experiences typically outlining a lifetime of exclusion and misunderstanding from family, educators and disability and health support services.
This paper contributes to filling the knowledge gap around a rare congenital brain disorder affecting the lives of adults. Findings confirm a considerable lack of information and support for adults living with corpus callosum disorders. Greater professional and societal understanding is needed to improve access to the key life domains of education, employment and social inclusion for adults with a DCC. To instigate truly effective change, social research must tackle the issues of applicability and impact to alter the dominance of uninformed practices, hindered by prevailing myths. This research paves the way for further phenomenological studies in which participant narrative is vital. Further research will elicit stronger policy and service responses for all current and emerging adults with a DCC.
虽然胼胝体发育不全（DCC）被归类为罕见疾病，但它是新生儿中最常见的脑部异常之一，每 4000 例活产中就有一例。影像学技术的进步提高了对儿童的早期诊断，但 DCC 患者（病因和影响可能存在极大差异）往往难以获得明确的诊断，也难以获得适当的服务和支持。迄今为止，由于缺乏记录 DCC 患者生活经历的证据，难以确定适当的政策和服务应对措施。这项探索性研究旨在通过首次对成年 DCC 患者的经历和影响进行定性研究来填补这一空白。
对澳大利亚的 8 名 23-72 岁的成年人进行了面对面访谈，以探讨他们的生活经历。2017 年 6 月至 8 月，在澳大利亚四个州收集数据。采用主题和解释性分析来分析数据。三个主题描述了与以下方面相关的困难：（1）对诊断的反应；（2）获得支持和关键生活领域；（3）认同自己是成年人。访谈分析描述了生活经历，通常概述了一生中因家庭、教育工作者以及残疾和健康支持服务而被排斥和误解的经历。
本文有助于填补影响成年人生活的罕见先天性脑疾病的知识空白。研究结果证实，成年人胼胝体发育不全患者缺乏相当多的信息和支持。需要提高专业人员和社会对 DCC 患者的理解，以改善他们在教育、就业和社会包容等关键生活领域的机会。为了真正有效地进行改变，社会研究必须解决适用性和影响问题，以改变由普遍存在的神话主导的未经验证的做法。这项研究为进一步的现象学研究铺平了道路，在这些研究中，参与者的叙述至关重要。进一步的研究将为所有当前和未来的 DCC 患者引出更强有力的政策和服务反应。
