Beyond burden: a cognitive task analysis of maternal expertise in Fragile X syndrome

Fragile X syndrome (FXS), the most common single-gene cause of intellectual and developmental disability, is often described through cognitive, behavioural, developmental, and medical challenges. While this literature is essential for understanding the FXS phenotype and guiding intervention, it can obscure the lived expertise families develop in daily life. Less is known about how experienced mothers use this expertise to interpret cues, adapt strategies, make decisions under uncertainty, and create conditions that support successful parenting moments, participation, and development. This study aimed to examine how experienced mothers raising sons with FXS use caregiving expertise to create successful parenting moments in everyday life. Using Cognitive Task Analysis, we examined the macrocognitive processes of seven mothers with more than 15 years of caregiving experience raising sons with FXS. Concept mapping was used as a knowledge elicitation tool, and reflexive theme-based analysis explored how participants navigated real-world decision-making and caregiving complexity. Three interrelated themes described expert maternal caregiving. Beyond the Diagnosis reflected attuned responsiveness, “following the spark,” understanding the “childscape,” and redefining success. Prioritize Caregiver Well-Being described self-compassion as a strategic foundation for sustainable caregiving. Recognize and Mobilize Champions highlighted the role of non-transactional allies who supported belonging and participation. Together, these themes illustrate caregiving as a dynamic practice of adaptation, meaning-making, and strengths-based decision-making. Experienced mothers demonstrated adaptive expertise by integrating intuition, reflection, and contextual knowledge to support their child’s participation, development, and well-being, while also recognizing caregiver well-being as foundational to sustainable care. Their strategies highlight caregiving as an evolving practice shaped by connection, adaptation, and relational knowledge. Recognizing and working alongside this expertise may help primary care and broader healthcare teams move beyond problem-centered frameworks toward collaborative, strengths-based partnerships with families, without relying on caregiver adaptability as a substitute for accessible and sustained support.