Speech and Surgical Considerations in 22q11.2 Deletion Syndrome
Document Type
Book Chapter
Publication Date
7-2025
Identifier
DOI: 10.1007/978-3-031-84663-2_29
Abstract
22q11.2 deletion syndrome (22q11DS) is one of the most common genetic causes of velopharyngeal dysfunction (VPD). Children with 22q11DS often present with speech-language delays and complex speech-sound disorders, and their degree of VPD tends to be more severe than that observed in non-syndromic patients. The etiology of VPD in 22q11DS is multifactorial and includes a variety of structural and neuromuscular causes. Comprehensive speech assessment and velopharyngeal imaging are critical for surgical planning. There is currently little consensus and/or evidence to support a specific surgical treatment algorithm for VPD in children with 22q11DS, and surgical practice patterns vary considerably. All children with 22q11DS should be referred to a comprehensive cleft palate/VPD team for ongoing monitoring, evaluation, and management.
Journal Title
Cleft Palate and Velopharyngeal Dysfunction
First Page
341
Last Page
349
Keywords
22q11.2 deletion syndrome; Velopharyngeal dysfunction; Velopharyngeal surgery; Speech outcomes
Recommended Citation
Kirschner, R.E., Bergman, H.J., Baylis, A.L. (2025). Speech and Surgical Considerations in 22q11.2 Deletion Syndrome. In: Kirschner, R.E., Baylis, A.L. (eds) Cleft Palate and Velopharyngeal Dysfunction. Springer, Cham. https://doi.org/10.1007/978-3-031-84663-2_29
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