From Autonomy to Self-Determination: Intra-Familial Forms of Communication and Identity Perspectives in Situations of Rare Disability

ABSTRACT: This study explores communication, autonomy, and self-determination in individuals with Angelman syndrome (AS), a rare genetic condition characterised by severe intellectual disability and the absence of speech. AS is associated with severe developmental delay, motor disorders, epilepsy, hyperactivity, and a characteristically cheerful disposition. Communication is significantly impaired: expressive language is virtually absent, while receptive language is retained, giving rise to the use of Augmentative and Alternative Communication (AAC). The qualitative methodology draws on ethnographic fieldwork conducted with families, comprising six home observation sessions and sixteen semi-structured interviews with parents, childminders, or educators. The analysis examines the role of AAC and a form of ‘everyday communication’ through the lens of autonomy and self-determination. Although AAC has been recognised by the United Nations since 2006, it remains underused in everyday contexts owing to constraints of time and complexity. Multimodal communication relies on interpersonal interaction (gestures, eye contact, routines), thereby promoting functional autonomy (mobility, eating) and identity formation. Autonomy begins with survival (basic needs), under constant supervision necessitated by associated risks, and gradually evolves towards the expression of preferences (leisure activities, choices) through a co-constructed relationship. Self-determination incorporates relational and social dimensions through the progressive development of a positive identity despite dependence. In conclusion, AAC complements ‘everyday communication’ in supporting self-expression beyond the family sphere. Self-determination is grounded in meaningful exchanges that sustain identity notwithstanding intellectual disability. The recommendations aim to extend AAC to social contexts and to contextualise autonomy within an inclusive support framework.