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© 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Background: 22q11.2 deletion syndrome is considered as a rare disease. It is considered one of the most prevalent genetic disorders with multiple systemic and neuropsychological alterations. At present, there are few studies that define the linguistic profile in Spanish of children with this syndrome. Objectives: Therefore, the aim of the present study was to define the phonemic–phonological characteristics of people with 22q11.2 Syndrome. Method: Eight boys and girls between 5 and 16 years old participated in an evaluation using the following tests: Induced Phonological Register and Laura Bosh’s Phonological Assessment and Children’s Speech. Results: After analyzing the results obtained, it was observed that more than half of the participants presented a delay in the acquisition of phonemes. Conclusions: The conclusion of this study points out the importance of working on language, especially the phonetic-phonological area, throughout the development of people with 22q11.2 Syndrome.

Details

Title
Phonemic–Phonological Profile of People with 22q11.2 Deletion Syndrome: A Pilot Study
Author
Moraleda-Sepúlveda, Esther 1   VIAFID ORCID Logo  ; Rubio-Lorca, María 2 ; Pulido-García, Noelia 1 ; Santos-Muriel, Noelia 1   VIAFID ORCID Logo  ; Espinosa-Villarroel, Javiera 1 

 Facultad de Psicología y Logopedia, Universidad Complutense de Madrid, 28040 Madrid, Spain[email protected] (J.E.-V.) 
 Facultad de Ciencias de la Salud, Universidad de Castilla-La Mancha, 45600 Talavera de la Reina, Spain; [email protected] 
First page
298
Publication year
2025
Publication date
2025
Publisher
MDPI AG
e-ISSN
20763425
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3181357430
Copyright
© 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.