Influence of Early Neurophysiotherapy On Gross Motor Function of A Child With Kabuki Syndrome

Kabuki syndrome is a rare genetic disorder characterized by major and minor congenital anomalies associated with developmental abnormalities. In Slovenia, 5 individuals have been diagnosed with Kabuki syndrome. Children with Kabuki syndrome have difficulty developing gross motor function due to generalized hypotonia, among other things. According to available data, there are currently no published studies and evidence-based neurophysiotherapy regarding the efficacy of contemporary neurodevelopmental treatment (NDT) in improving gross motor function in children with Kabuki syndrome. Methods: We conducted a case study where we used the mixed methods design, more specifically the convergence model, and investigated the effectiveness of 12-month modern RNO on improving gross motor function in a child with Kabuki syndrome. In the quantitative part of the case study, we performed a retrospective analysis of the quantitative results of the gross motor function measure (GMFM-88). In the qualitative part of the case study, we conducted a semi-structured interview with the subject. Results: Based on the analysis of the results of the existing case study using the integration of a quantitative research paradigm in a child with Kabuki syndrome, we find that the mentioned neurophysiotherapy program is effective in improving short motor function in all target areas A-lying and roling, B-sitting, C- crawling and kneeling, D -standing). Conclusions: Based on the mixed methods, we consequently gained a deeper insight into the subjective experience of the effectiveness of the aforementioned neurophysiotherapy program of a physiotherapist of a boy with Kabuki syndrome to improve in the field of activity and participation.