abstract
- OBJECTIVE: Velopharyngeal insufficiency (VPI) is an often underrecognized disorder of palatal and nasopharyngeal closure that leads to the production of hypernasal speech. However, the potential clinical association between VPI and neurofibromatosis type 1 (NF1) remains undefined in the literature. The purpose of this study sought to identify and describe the potential clinical association of VPI in NF1 patients. DESIGN: A combined retrospective and prospective study. SETTING: Tertiary referral centre. METHODS: The NF1 database from 1998 to 2007 from the Medical Genetics Unit of our institution was used for this project. All NF1 patients seen during this period were sent a letter soliciting their participation in the study, which was designed to screen for the presence of VPI. MAIN OUTCOME MEASURES: Perceptual testing was undertaken using the American Cleft Palate-Craniofacial Association (ACPA) clinical database form and acoustic measurement of nasal flow, including standard nasometry and nasalance scores. A comprehensive chart review was also performed. RESULTS: One hundred forty-nine NF1 patients were identified from the database; 18 patients responded to our request for participation, with 3 additional participants recruited from recent clinical visits. Eleven of these 21 patients exhibited VPI based on perceptual evaluation and nasometry screening. CONCLUSIONS: This preliminary study attempted to identify a potential association between NF1 and VPI. Although this sample of NF1 patients was small, the finding of 11 of 21 patients being positively identified with some degree of VPI is of clinical interest, and further research is warranted.