Danijela Drakulic1*, Marijana Rakonjac2, 3, Goran Cuturilo4, 5, Natasa Kovacevic-Grujicic1, Jelena Kusic-Tisma1, Ivana Moric1, Branka Zukic1, and Milena Stevanovic1,6,7
1Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, 11042 Belgrade 152, Serbia
2Institute for Experimental Phonetics and Speech Pathology, Jovanova 35, 11000 Belgrade, Serbia
3Current address: Speech and language pathology center “Logogen”
4University Children’s Hospital, Tirsova 10, 11000 Belgrade, Serbia
5Faculty of Medicine, University of Belgrade, Dr Subotica 8, 11000 Belgrade, Serbia
6Faculty of Biology, University of Belgrade, Studentski trg 16, 11000 Belgrade, Serbia
7Serbian Academy of Sciences and Arts, Kneza Mihaila 35, 11000 Belgrade, Serbia
danijeladrakulic [at] imgge.bg.ac.rs
Abstract
22q11.2 deletion syndrome (22q11.2DS is caused by 22q11.2 microdeletion, one of the strongest known risk factors for development of neurodevelopmental disorders. About 70% patients with 22q11.2DS have speech and language impairments. In the literature, there is no data about articulatory characteristics of phonemes of children with 22q11.2DS, monolingual native speakers of South Slavic languages. Here we, by applying Global Articulation Test, analyzed articulatory characteristics of phonemes of children with 22q11.2DS, monolingual native speakers of the Serbian language (group E1), children with a phenotype resembling 22q11.2DS but without the microdeletion (group E2), children with non-syndromic congenital heart malformations (since children with these malformations may exhibit a speech and language impairments) (group E3) and their peers with typical speech-sound development (group C). Results of PCA indicated that the groups can be distinguished based on the pronunciation of phonemes, and that the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩” contributes the most to the variability between the groups. Results of AHP revealed that the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩” was rated the worst in the group E1. In conclusion, obtained results indicate that the presence of 22q11.2 microdeletion influences articulation skills of carriers.
Keywords: PCA, AHP, articulation, 22q11.2DS
Acknowledgement: This research was funded by European Union`s Horizon Europe programme (Grant Agreement Number 101060201 (STREAMLINE)), Ministry of Science, Technological Development and Innovation of the Republic of Serbia (grant number 451-03-47/2023-01/200042) and the Serbian Academy of Sciences and Arts (Grant number F-172).
