Listy klinické logopedie 2023, 7(1):27-30 | DOI: 10.36833/lkl.2023.0101011

Case study of girl with Cornelia de Lange syndrome

Adelaida Fábianová1,2, Žofia Frajková3, 4, 5, Miroslav Tedla4
1 AXIS International Rehabilitation Center, Kúpeľný ostrov 3605/34, Piešťany 921 29, Slovensko
2 Lekárska fakulta UK, Špitálska 24, 813 72 Bratislava, Slovenská republika.
3 Fakultná nemocnica Trnava, Neurologické oddelenie, Andreja Žarnova 11, 917 75 Trnava, Slovenská republika
4 Klinika otorinolaryngológie a chirurgie hlavy a krku LFUK a UNB Bratislava, Univerzitná nemocnica Bratislava Nemocnica sv. Cyrila a Metoda, Slovenská republika
5 Katedra logopédie Pedagogická fakulta Univerzity Komenského v Bratislave, Račianska 59, 813 34 Bratislava, Slovenská republika

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

Received: March 31, 2023; Revised: April 24, 2023; Accepted: May 2, 2023; Published: June 14, 2023  Show citation

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Fábianová A, Frajková Ž, Tedla M. Case study of girl with Cornelia de Lange syndrome. Listy klinické logopedie. 2023;7(1):27-30. doi: 10.36833/lkl.2023.010.
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