The EarlyCaLL Framework application to detect and monitor outcomes of patients with hearing loss and CHARGE association

CHARGE association is a rare and complex multisystemic condition characterized by marked clinical heterogeneity, which often complicates both clinical decision-making and the evaluation of outcomes related to cochlear implantation or hearing device fitting. Standardized audiological outcome measures currently available in the literature are often not suitable for populations with special needs. In this context, functional hearing assessment tools capable of capturing real-life changes across multiple developmental domains are particularly needed. The present study aimed to evaluate the clinical applicability and reliability of the EarlyCaLL questionnaire for the assessment of functional hearing outcomes in patients with CHARGE association, with the additional goal of supporting informed and shared clinical decision-making with families by providing realistic expectations regarding the potential benefits and limitations of cochlear implantation or hearing device fitting. A cohort of eight patients with CHARGE association underwent clinical and audiological evaluation, providing the contextual framework for the assessment with the EarlyCaLL questionnaire, which integrated direct clinical observation, caregiver-reported information, and available clinical data. Both retrospective and prospective evaluations were included, reflecting real-life clinical practice in rare and clinically complex populations. The EarlyCaLL demonstrated its ability to provide consistent and clinically meaningful information over time, even in the presence of clinical heterogeneity, missing data, and non-standardized follow-up schedules. Importantly, the questionnaire was sensitive in detecting qualitative improvements not limited to vocalization or language outcomes but also involving other functional and behavioural domains influenced by hearing rehabilitation. Overall, these findings support the reliability of the EarlyCaLL questionnaire for the specific aims of the present study and highlight its value as a clinically oriented tool for longitudinal monitoring in complex populations. By adopting a multidimensional and functional approach, the EarlyCaLL may contribute to a more comprehensive understanding of hearing-related outcomes and their impact on everyday functioning and quality of life in patients with CHARGE association.