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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.

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Speech and Surgical Considerations in 22q11.2 Deletion Syndrome

  • 章节

  • 发表日期：

    2025年

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  • Richard E. Kirschner,
  • Hannah J. Bergman,
  • Adriane L. Baylis

摘要

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.