Phoniatric assessment in Kabuki Syndrome and its contributions to an individualized approach to school learning challenges

Case report

Abstract

Introduction: Kabuki syndrome is a rare disease with variable clinical manifestations, often associated with intellectual disability and comorbidities that impact academic performance. Phoniatric assessment can provide an individualized perspective, assisting in the management of learning difficulties in these patients. Objective: To report a case of Kabuki syndrome evaluated in a phoniatric outpatient clinic, highlighting the role of phoniatric assessment in directing individualized interventions that consider important skills for school learning. Method: A phoniatric assessment was performed on a child diagnosed with Kabuki syndrome, referred due to school difficulties. Results: The assessment identified specific auditory perceptual deficits that affected academic performance, in addition to visual skills that could facilitate learning. These findings guided the development of personalized management strategies. Conclusion: Kabuki syndrome presents great clinical variability. In the reported case, the phoniatric assessment contributed to the identification of altered auditory and visual perceptual skills that facilitate school learning, directing therapeutic interventions and school adaptations.