Adults with 22q11.2 deletion syndrome have a different velopharyngeal anatomy with predisposition to velopharyngeal insufficiency

Aim: To find out if subjects with 22q11.2 deletion syndrome (DS) have a different velopharyngeal anatomy which could cause velopharyngeal insufficiency (VPI).

Methods: A prospective study of 16 subjects >16 years of age with 22q11.2 DS, without overt cleft palate and without previous VPI surgery, and 48 healthy controls >18 years of age were included in the study. Speech was recorded and scored blindly by two independent senior speech therapists. All 64 individuals had MRI scans, which were analyzed blindly by a consultant radiologist.

Results: Subjects with 22q11.2 DS had a mild degree of weak pressure consonants (mean score); borderline to mild degree of hypernasality and audible nasal emission (mean score). All controls had normal speech. When comparing subjects (22q11.2 DS) to controls, we found the subjects to have the following: A shorter distance between left and right points of origin of the levator veli palatini muscle (LVP) (p < 0.0001); a more obtuse angle of origin of the LVP (bilaterally) (p < 0.009); a thinner LVP bilaterally and in the midline (p < 0.0001); a shorter LVP bilaterally (p < 0.0001); a shorter velum (p = 0.007); a larger osseous pharyngeal depth:velar length ratio (p = 0.01); a more obtuse anterior cranial base angle (nasion to sella to basion) (p < 0.0001) and posterior cranial base angle (sella to basion to foramen magnum) (p < 0.0001); a wider velopharyngeal width (p = 0.002) and a larger pharyngeal airway volume (p = 0.0007).

Conclusion: Compared with healthy controls, adults with 22q11.2 DS showed a different velopharyngeal anatomy, which will make these individuals more prone to VPI.