CASE STUDY OF GIRL WITH CORNELIA DE LANGE SYNDROME

Czech version

Authors: Fábianová Adelaida ^1,2; Frajková Žofia ^3,4,5; Tedla Miroslav ⁴
Authors‘ workplace: AXIS International Rehabilitation Center, Kúpeľný ostrov 3605/34, Piešťany 921 29, Slovensko. E-mail: fabianova. adelaida@gmail. com. ¹; Lekárska fakulta UK, Špitálska 24, 813 72 Bratislava, Slovenská republika. ²; Fakultná nemocnica Trnava, Neurologické oddelenie, Andreja Žarnova 11, 917 75 Trnava, Slovenská republika. ³; MPH Klinika otorinolaryngológie a chirurgie hlavy a krku LFUK a UNB Bratislava, Univerzitná nemocnica Bratislava ⁴; Katedra logopédie Pedagogická fakulta Univerzity Komenského v Bratislave, Račianska 59, 813 34 Bratislava, Slovenská republika. ⁵; Nemocnica sv. Cyrila a Metoda, Antolská 11, 81 07 Bratislava, Slovenská republika. ⁵
Published in: Listy klinické logopedie 2023; 7(1): 27-30
Category: Main topic
doi: https://doi.org/10.36833/lkl.2023.010

Overview

Cornelia de Lange Syndrome is a genetic syndrome with manifestations in the somatic, cognitive and perceptual areas. It is characterised by interindividual differences among patients with this diagnosis. Impairments include vision and hearing impairments, behavioural disorders and impairment of communication skills. The presented case report presents the characteristics of Cornelia de Lange Syndrome from the point of view of a clinical Speech and Language Therapist. It adds to the professional literature on clinical Speech Therapy procedures used in the therapy of impaired communication skills and in the feeding and swallowing disorder.

Keywords:

eating disorders – speech and language therapy – Cornelia de Lange – genetic syndrome – case report of impaired communication skills – altered muscle tension

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