KABUKI SYNDROME – A CASE REPORT: DRAFT OF A TWO-STAGE DIAGNOSTIC PROCEDURE FOR VERBAL CHILDREN WITH COMBINED PHYSICAL AND MENTAL DISABILITIES

Czech version

Authors: Červenková Barbora ^1,2; Sedláčková Michaela ³
Authors‘ workplace: Ústav speciálněpedagogických studií, Pedagogická fakulta Univerzity Palackého v Olomouci, Žižkovo nám. 5, 779 00 Olomouc, Česká republika. ¹; Fakultní nemocnice Brno, Neonatologické oddělení, Obilní trh 11, Brno 602 00, Česká republika. ²; tátní léčebné lázně Janské Lázně, Dětská léčebna Vesna, Česká republika. ³
Published in: Listy klinické logopedie 2023; 7(1): 4-10
Category: Main topic
doi: https://doi.org/10.36833/lkl.2023.003

Overview

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.

Keywords:

dysphagia – speech therapy – Kabuki syndrome – symptomatic speech disorders – two-stage speech and language assessment

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