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.

Objectives Support for adults with congenital corpus callosum disorders (CCDs) is impeded by poor understanding of the impacts of a CCD on day-to-day functioning and quality of life. This scoping review examines existing literature to establish the evidence-based impacts of congenital CCDs in adults and identify gaps to inform future research, policy development, and service delivery. Methods We conducted searches in Scopus, Medline Ovid, PsycInfo, Discovery, and ERIC. Studies meeting selection criteria were peer-reviewed, in English, published from 1980 to 2021, reported predominantly on participants 16 years or older who were diagnosed with a CCD by magnetic resonance imaging (MRI). Results The thirty-eight included articles comprised 14 single/dual participant case studies and 24 group studies, comparing adults with a CCD with normative data or matched controls. Although most participants were of average IQ, CCDs affected day-to-day executive functioning, social interaction, and meeting expectations of adulthood. Cognitive impacts included difficulties with learning and memory, linguistic and emotional processing, and complex reasoning, with functional capacity typically decreasing as tasks and situations increased in complexity. Psychological impacts pertaining to feelings, emotions, and social awareness were reported in addition to associated mental health, psychiatric mood, and developmental and psychotic disorders including autism, anxiety, depression, and schizophrenia. Conclusions Impacts were extremely heterogenous, presenting interwoven challenges to learning, executive functioning, social interaction, and mental health. Knowledge of these circumstances is vital for adults with CCDs, professionals, and family members to ensure appropriate services and support are available to promote good quality, inclusive lives for all adults with a CCD.

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. ResultsEight face-to-face interviews were conducted with Australian adults, aged 23 to 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. ConclusionsThis 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.