Multidisciplinary Velopharyngeal Dysfunction Evaluation Helps Detect Non-classic Cases of 22q11.2 Deletion.

OBJECTIVE: To explore the role of multidisciplinary velopharyngeal dysfunction (VPD) assessment in diagnosing 22q11.2 deletion syndrome (22q) in children. DESIGN: Retrospective cohort study. SETTING: Multidisciplinary VPD clinic at a tertiary pediatric hospital. PATIENTS, PARTICIPANTS: Seventy-five children with genetically confirmed 22q evaluated at the VPD clinic between February 2007 and February 2023, including both previously diagnosed patients and those newly diagnosed as a result of VPD evaluation. INTERVENTIONS: Comprehensive review of medical records, utilizing ICD-10 codes and an institutional tool for keyword searches, to identify patients and collect data on clinical variables and outcomes. MAIN OUTCOME MEASURES: Characteristics of children with 22q, pathways to diagnosis, and clinical presentations that led to genetic testing for 22q. RESULTS: Of the 75 children, 9 were newly diagnosed with 22q following VPD evaluation. Non-cleft VPI was a significant indicator for 22q in children not previously diagnosed, occurring in 100% of newly diagnosed cases compared to 52% of cases with existing 22q diagnosis (P = .008). Additional clinical findings leading to diagnosis included congenital heart disease, craniofacial abnormalities, and developmental delays. CONCLUSIONS: VPD evaluations, particularly the presence of non-cleft VPI, play a crucial role in identifying undiagnosed cases of 22q. This underscores the need for clinicians, including plastic surgeons, otolaryngologists, and speech-language pathologists, to maintain a high degree of suspicion for 22q in children presenting with VPI without a clear etiology. Multidisciplinary approaches are essential for early diagnosis and management of this complex condition.

Comparative Study of Pharyngeal Flap Outcomes between Children With 22q11.2 Deletion Syndrome and Non-Syndromic Cleft Lip and Palate.

BACKGROUND: Management of velopharyngeal insufficiency (VPI) in 22q11.2 deletion syndrome (22q) is challenging. This study compares pharyngeal flap outcomes in children with 22q to those with non-syndromic cleft lip and palate (CLP) to assess risk of poor speech outcomes and negative sequelae. METHODS: Children with 22q or CLP treated with pharyngeal flap through a multidisciplinary VPI clinic between 2009 and 2020 were retrospectively reviewed. Pre- and postoperative speech assessments, perioperative characteristics, and complications were identified. RESULTS: 36 children with ​22q and 40 with CLP were included. Age at surgery (p=0.121), pre-operative velopharyngeal competence score (VPC) (p=0.702), and pre-operative resonance (p=0.999) were similar between groups. Pharyngeal flaps were wider (p=0.038*) and length of stay longer in the 22q group (p=0.031*). On short term follow 4 months after surgery, similar speech outcomes were seen between groups. At long term follow up >12 months after surgery, 86.7% 22q v. 100% CLP (p=0.122) had improvement in velopharyngeal function, however fewer children with 22q (60.0%) achieved a completely "competent" VPC score compared to those with CLP (92.6%) (p=0.016*). Nasal regurgitation improved for both groups, with a greater improvement in those with 22q (p=0.026*). Revision rate (p=0.609) and new onset OSA (0.999) were similar between groups. CONCLUSION: Children with 22q have improved speech after pharyngeal flap, but may be less likely to reach normal velopharyngeal function over the long term than those with CLP; however, negative sequelae do not differ. Improvement in nasal regurgitation is a uniquely positive outcome in this population.