Velopharyngeal Insufficiency in Craniofacial Microsomia: Prevalence, Diagnosis, and Treatment

Abstract

The purpose of this study was to analyze the prevalence, diagnosis, and management of velopharyngeal insufficiency (VPI) in patients with craniofacial microsomia (CFM).Craniofacial microsomia patients 13 years of age and above treated at 2 centers from 1997 to 2019 were reviewed retrospectively for demographics, prevalence of VPI, and management of VPI. Patients with isolated microtia were excluded. Comparisons were made between patients with and without VPI using chi-square and independent samples t tests.Among 68 patients with CFM (63.2% male, mean 20.7 years of age), VPI was diagnosed in 19 patients (27.9%) at an average age of 7.2 years old. Among the total cohort, 61 patients had isolated CFM, of which 12 (19.6%) were diagnosed with VPI. Of the patients with isolated CFM and VPI, 8 patients (66.7%) were recommended for nasoendoscopy, of which only 2 patients completed. Seven isolated CFM patients (58.3%) underwent speech therapy, whereas none received VPI surgery. In contrast, 7 patients were diagnosed with both CFM and cleft lip and/or palate (CL/P), all of whom had VPI and were recommended for nasoendoscopy, with 5 (71.4%) completing nasoendoscopy, 6 (85.7%) undergoing speech therapy, and 6 (85.7%) undergoing corrective VPI surgery. Overall, we demonstrated that VPI was present in 27.9% of all CFM patients. On subset analysis, VPI was diagnosed in 20% of patients with isolated CFM and 100% of patients with CFM and CL/P. In addition, despite clinical diagnosis of VPI, a sizeable proportion of isolated CFM patients did not undergo therapy or surgical interventions.

Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review

“…The studies demonstrate significant heterogeneity in the eligibility criteria for the study population. Although some studies only included individuals with microtia/atresia ( Jensen et al, 2013 ; van Hövell Tot Westerflier et al, 2019 ), other studies focused on those with a diagnosis of Goldenhar syndrome ( Belenchia & McCardle, 1985 ; Berkman & Feingold, 1968 ; Van Lierde et al, 2004 ), a diagnosis of CFM plus an additional specific anatomic finding ( Chan et al, 2021 ; Chen et al, 2009 ; Dentino et al, 2016 ; Funayama et al, 2007 ), and many studies included broad populations in which CFM represented a small proportion of their overall study cohort ( Argamaso et al, 1994 ; Fritz & Rickert, 2016 ; Witt et al, 1995 ). Median sample size of those with CFM was 26 but ranged from one to 167 participants.…”

“…Hyponasality was otherwise absent or not reported. All articles measuring presence of VPI (e.g., report of hypernasality, nasal air emission, and/or “nasal speech”), identified VPI in a proportion of their population with CFM, independent of presence of asymmetric velar elevation and/or CP ± L. A retrospective cohort study comparing individuals with CFM and VPI to a CFM group without VPI found that all individuals with CFM and CP ± L had VPI ( n = 7) compared to just 19% of those with CFM without CP ± L ( p < .001; Chan et al, 2021 ). Another retrospective cohort study, however, found no difference in prevalence of VPI or need for pharyngeal flap between those with CFM + CP ± L and those with isolated CP ± L ( Dentino et al, 2016 ).…”