BACKGROUND: this study aimed at describing the language intervention process in a Kabuki syndrome case, emphasizing the language therapy. PROCEDURES: this is a report of a six and a half year-old girl, diagnosed with Kabuki syndrome, who attended language therapy for three years at a clinical school. The documental analysis of the medical register form was made, concerning interview evaluation and language therapeutic reports, examination and multidisciplinary evaluations. When the child was three years and five months old, she went through language evaluation and showed typical characteristics of Kabuki syndrome: cardiac alterations, pneumonia, recurrent secretory otitis media, orthopedic alterations and convulsion crises. For the language evaluation, she presented a reduced period of hearing and visual attention, impaired oral comprehension, communication through only a few gestures and sounds and also behavioral problems. RESULTS: the therapeutic process aimed to promote language development emphasizing social interaction through ludic activities, and a familiar and scholar follow-up. An improvement was observed for comprehension and oral language, social interaction and attention steadiness. CONCLUSION: this study allowed the trajectory disclosure of language development concerning the Kabuki syndrome, from the diagnosis to the language therapy. It was observed that the therapy was effective concerning communication abilities and social interaction. These data may contribute to clarify some aspects in the literature towards the language therapy for the cited syndrome and also suggest clinical interventions for these cases.
Genetics; Language; Evaluation; Rehabilitation