Kabuki Syndrome - a case report: Draft of a two-stage diagnostic procedure for verbal children with combined physical and mental disabilities

Abstract

The case report presents a girl aged 10.5 years who was diagnosed with Kabuki syndrome. The inheritance of this syndrome is autosomal-dominant. The main clinical features include facial stigmata, malformations and congenital organ malformations, short stature and dysphagia. Phenotypic features include impaired language skills and reasoning. Most children with this diagnosis have intellectual disability. The aim of this case report is to present a two-stage diagnostic procedure, applicable to individuals with symptomatic speech impairment based on combined intellectual and physical disabilities, so that the subsequent therapeutic approach can be targeted. Firstly, the level of activity and participation in the basic areas of psychomotor development (gross motor, fine motor, speech) was assessed, using tools from the ICF (International Classification of Functional Abilities, Disability and Health). The results obtained were correlated with those for eating, thinking and play, to determine whether or not development was uniform. Subsequently, the procedure for a more detailed analysis of communication skills was presented. The therapeutic section includes a description of the specific therapeutic procedure.