Phonemic-Phonological Profile of People with 22q11.2 Deletion Syndrome: A Pilot Study.

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.