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  • Title: Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns.
    Author: Jackson OA, Paine K, Magee L, Maguire MA, Zackai E, McDonald-McGinn DM, McCormack S, Solot C.
    Journal: Int J Pediatr Otorhinolaryngol; 2019 Jan; 116():43-48. PubMed ID: 30554706.
    Abstract:
    OBJECTIVE: To determine demographics and practice patterns of surgeons treating velopharyngeal dysfunction (VPD) in patients with 22q11.2 deletion syndrome (22q11.2DS). METHODS: An anonymous electronic survey study was administered to the surgical membership of the American Cleft Palate-Craniofacial Association and the Society for Ear Nose and Throat Advances in Children. The survey queried surgeon demographics and differences in management practices for submucous cleft palate (SMCP), pharyngoplasty algorithms, and self-reported complications for nonsyndromic versus 22q11.2DS patients. RESULTS: 126 surveys were returned from 9 international regions with the majority from the United States (73%), followed by Western Europe (9.5%) and Canada (7.9%). Plastic surgery was the most common specialty (61.9%), followed by otolaryngology (27.8%). 88.1% reported fellowship training, and 33% completed multiple fellowships. Prior to proceeding with pharyngoplasty in 22q11.2DS patients, surgeons required the following assessments: speech evaluation (79.4%), velopharyngeal imaging (51.6%), cardiac evaluation (50.0%), carotid artery MRI (29.4%), and cervical spine x-rays (11.1%). Nasoendoscopy was the most common modality used for imaging the velopharynx. Overall, providers managed patients with 22q11.2DS similarly to nonsyndromic patients, with several significant exceptions including that they were more likely to perform SMCP repair alone as a first approach in nonsyndromic patients (p = 0.031) and posterior pharyngeal flap without SMCP repair in those with 22q11.2DS (p = 0.017). CONCLUSIONS: Practice patterns for the management of VPD in patients with 22q11.2DS vary across providers. Further collaborative studies are needed to develop optimal treatment paradigms for VPD in patients with 22q11.2 DS.
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