On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum

Abstract

Background 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. Results 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. Conclusions 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.

Cognitive and Psychological Impacts of Congenital Corpus Callosum Disorders in Adults: A Scoping Review

“…Lack of intervention and support contributes to inadequate preparation for the complex demands of adulthood, causing significant social difficulties in independent living and maintaining relationships and employment, in addition to developing mental health and psychiatric issues (Clegg et al). Impacts of complex cognitive and psychosocial challenges become more pronounced for adults with a CCD as expectations of functioning with greater independence increase (Australian Disorders of the Corpus Callosum 2020; Maxfield et al, 2021). As suggested by Roxanas et al (2014) and Renteria-Vazquez et al (2021), proficiency in performing simple social tasks does not always translate to the more complex inferential social skills required for the development of socially inclusive relationships.…”

“…Self or proxy descriptions of one or more of these problems were mentioned in 16 studies. As such, in addition to the aforementioned functional impacts, adults with a CCD contend with diagnostic delays, misdiagnosis, and dismissive attitudes from professionals informed by inadequate resources and confounded by complex, heterogeneous CCD symptomology (Jeeves, 1965;Maxfield et al, 2021;Paul et al, 2007;Schilmoeller & Schilmoeller, 2000). For individuals with rare conditions, experiences of professional consultations with inaccurate resources and practices create stigma, mental and physical harm, and exclusion (Anderson et al, 2013;Bryson & Bogart, 2020;Molster et al, 2016;Zurynski et al, 2017).…”

“…For example, Lau et al (2013) found that 45% of children and 35% of adolescents with a CCD met criteria for an autism diagnosis, and Siffredi et al (2018) reported that while 20% of children with a CCD indicated typical development, 50% experienced difficulties in intellectual, executive, behavioral, academic, and social function. However, CCDs in adults may be undiagnosed, with neurodevelopmental challenges attributed to associated diagnoses or even personal shortcomings (Maxfield et al, 2021;Paul et al, 2007). There are examples of undiagnosed adults presenting with incidental injuries or psychological/psychiatric symptoms warranting neuroimaging, which subsequently reveal a CCD (Bondade et al, 2018;Chinnasamy et al, 2006;Moreau et al, 2021;Popoola et al, 2019;Simon et al, 2008;Valenti et al, 2019).…”

“…Although pediatric CCD management is becoming better informed by early diagnosis and expanding biological research, failure to yet identify "a clear and unique neuropsychological phenotype" (Siffredi et al, 2018, p. 453) challenges consensus for support needs of children and adults. What is recognized, however, is that where individuals receive inadequate supports, a CCD can be disabling (Bogart & Irvin, 2017;Maxfield et al, 2021). Despite increased awareness of disability in society and legislated measures to promote educational and workplace inclusion, adults with disability are underrepresented in higher education and the workforce (Gray, 2020).…”