Linguistic profile in individuals with 22q11.2 syndrome: A systematic review

22q11.2 syndrome is the second most common genetic condition worldwide, where communication, language, and speech are significantly affected to varying degrees. This has generated considerable interest among professionals working with this population. The objective of this research is to review studies conducted in recent years concerning language delays and difficulties experienced by individuals with 22q11.2 syndrome. A total of 21 articles were analyzed, focusing on the development of oral language, written language, and overall communication, following the PRISMA Statement guidelines and COSMIN methodology. The results highlight that individuals with 22q11.2 syndrome present significant difficulties, particularly in speech, various areas of expressive language, and in the acquisition of reading and writing skills when compared to their typically developing peers across different developmental stages. Therefore, linguistic intervention should be considered a fundamental area of support throughout the lifespan of individuals with 22q11.2 syndrome.

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Journal
Language and Health
Published
2026-03-21
DOI
https://doi.org/10.1016/j.laheal.2026.100082
Primary Topic
Congenital heart defects research
Type
article
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0.00
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article

Linguistic profile in individuals with 22q11.2 syndrome: A systematic review

Dra. Esther Moraleda Sepúlveda, Dña. Javiera Espinosa Villarroel, Dña. Nadia Loro Vicente
Language and Health
Congenital heart defects research
article

Linguistic profile in individuals with 22q11.2 syndrome: A systematic review

Dra. Esther Moraleda Sepúlveda, Dña. Javiera Espinosa Villarroel, Dña. Nadia Loro Vicente
article en

Abstract

22q11.2 syndrome is the second most common genetic condition worldwide, where communication, language, and speech are significantly affected to varying degrees. This has generated considerable interest among professionals working with this population. The objective of this research is to review studies conducted in recent years concerning language delays and difficulties experienced by individuals with 22q11.2 syndrome. A total of 21 articles were analyzed, focusing on the development of oral language, written language, and overall communication, following the PRISMA Statement guidelines and COSMIN methodology. The results highlight that individuals with 22q11.2 syndrome present significant difficulties, particularly in speech, various areas of expressive language, and in the acquisition of reading and writing skills when compared to their typically developing peers across different developmental stages. Therefore, linguistic intervention should be considered a fundamental area of support throughout the lifespan of individuals with 22q11.2 syndrome.

Language and HealthVol. 4(1)
Universidad Complutense de Madrid (ES)
Quality Education
Openalex Percentile: Top 14%
Congenital heart defects research
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