22q11.2 Deletion: Surgical and Speech Outcomes of Patients With Velopharyngeal Insufficiency Treated With a Superiorly Based Pharyngeal Flap as the Primary Surgery

Carvajal, Drina C Álvarez; Aguilera, Mirta M Palomares; Meneses, María B. Geldres; Bravo-Torres, Sofía; Villarroel, Carlos Giugliano

doi:10.1097/scs.0000000000004859

Cited by 11 publications

(2 citation statements)

References 34 publications

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“…49 Carvajal et al also demonstrated satisfactory postoperative outcomes in patients with 22q11.2 deletion syndrome treated by pharyngeal flap repair. 50 Like Bezuhly et al, the authors concluded that patients with 22q11.2 deletion syndrome can be safely treated with surgical repair, but pre-operative planning must be performed so that individualised treatment can be provided.…”

Section: Discussionmentioning

confidence: 99%

Surgical Management of Submucous Cleft Palate by Radical Muscle Dissection Veloplasty: Speech Outcomes in Patients with 22q11.2 Deletion Syndrome

Ghanem

Borg

Youssef³

et al. 2023

The Cleft Palate Craniofacial Journal

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Objective To evaluate the benefit of anatomical muscle dissection repair for velopharyngeal insufficiency (VPI) in patients with submucous cleft palate (SMCP) with 22q11.2 deletion syndrome. Design Retrospective blinded randomised analysis of a surgeon's management over 10 years. Setting The study was performed at a specialised Paediatric hospital in the United Kingdom. Patients Children with SMCP and 22q11.2 deletion syndrome. Interventions All participants underwent radical muscle dissection veloplasty. Outcomes measured Pre- and post- operative measurements included severity of anatomical defect, speech samples and lateral images which were digitised, randomised then externally and blindly analysed using validated techniques. Stata software was used to perform statistical analysis. Results 57 children with 22q11.2 deletion syndrome were included in this analysis. Intra-operatively, the majority of cases were identified as SMCP Grade I anomalies. Post-operatively, a statistically significant improvement in hypernasality, resting palate length, palate length at maximum closure, palate excursion and gap size at maximum closure was observed. Secondary surgery was performed for 59% of patients by ten years. Conclusion Muscle dissection repair improves hypernasality, palate closure function and the closure gap in patients with 22q11.2 deletion syndrome. Although over 50% of patients may require further surgery, muscle dissection repair should be a first step due to its utility at a younger age, when invasive investigations are impossible, its lower morbidity, speech and language benefits or altering the plans for less obstructive secondary surgery when it lead to reduced velo-pharyngeal gap and improved palate mobility even when adequate velo-pharyngeal closure was not achieved.

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Section: Discussionmentioning

confidence: 99%

Surgical Management of Submucous Cleft Palate by Radical Muscle Dissection Veloplasty: Speech Outcomes in Patients with 22q11.2 Deletion Syndrome

Ghanem

Borg

Youssef³

et al. 2023

The Cleft Palate Craniofacial Journal

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“…It is important, after this analysis, to follow clear diagnostic study guidelines, as suggested in other studies. A different scheme is applied in those with SMCP, chromosome 22 microdeletion, and severe VPI, where the indication for a custom flap has been protocolized after performing nasopharyngoscopy 40 …”

Section: Discussionmentioning

confidence: 99%

Speech Outcomes and Velopharyngeal Function in Children Undergoing Submucous Cleft Palate Repair

Carvajal

Inostroza-Allende

Meneses

et al. 2023

Journal of Craniofacial Surgery

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Objective: Describe and compare the results of speech and velopharyngeal function in children with classic and occult submucous cleft palate undergoing interdisciplinary treatment at the Gantz Foundation. Methods: The clinical history of all patients born between 2012 and 2017 with a diagnosis of classic or occult submucous cleft palate was retrospectively reviewed. Preoperative and postoperative medical, surgical, and speech and language history were collected. Results: Twenty-eight cases diagnosed at the age of 44.8±23.9 months were included. Of these, 71.4% presented classic submucous cleft, and 28.6% occult. Before primary surgery, 7.1% had a diagnosis of the syndrome, and 21.4% were under study. A total of 39.3% had hearing difficulties and 21.4% used tympanic ventilation tubes. A total of 60.7% had language problems, 39.3% had compensatory articulation, 17.9% had absent hypernasality, and 21.4% had absent nasal emission. The team indicated primary palate surgery in 71.4%, of which 85% performed the surgery at the mean age of 61.7±24.7 months. The surgical technique was Furlow in 88.2% of the cases and intravelar veloplasty in the remaining 11.8%. Then, 3 cases underwent velopharyngeal insufficiency surgery; 2 of them eliminated hypernasality and reduced nasal emission. The age of diagnosis (P=0.021) and the performance of velopharyngeal insufficiency surgery (P=0029) of the occult submucous cleft palate group was significatively later than the classic cleft palate group. Conclusions: Language, hearing, compensatory articulation, hypernasality, and nasal emission problems were recorded. A high percentage required primary surgery. Of these, a low proportion also required a velopharyngeal insufficiency surgery, which improved the velopharyngeal function of the children but did not completely adapt it. In this regard, early diagnosis is essential, as well as an analysis of each center primary closure protocol.

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Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery

Duckett,

Poupore,

Carroll

et al. 2023

The Laryngoscope

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ObjectiveTo evaluate the utility of preoperative imaging before velopharyngeal dysfunction (VPD) surgery in children with 22q11 Deletion Syndrome (22qDS) in evaluating internal carotid artery (ICA) medialization.Data SourcesPubMed, Scopus, and CINAHL.Review MethodsFollowing PRISMA guidelines, a systematic review was performed. Studies of children with 22qDS who underwent preoperative imaging (MRA or CTA) to identify ICA anomalies were included. High‐risk medialized ICAs were defined as either submucosal, retropharyngeal, Pfeiffer Grade III‐IV, or <3 mm from the pharyngeal mucosa. Meta‐analyses of proportions were performed.ResultsEleven studies met inclusion criteria, comprising 398 patients with 22qDS (weighted mean age 7.6 years). In 372 patients with imaging, the rate of ICA medialization on imaging was 47.1% (95%CI 29.2–65.5), of which 46.3% (95%CI 27.4–65.8) were determined high risk. Operative plans were modified in 19.4% (95%CI 5.7–38.8) of 254 surgeries due to medialized ICA. In studies attempting to use nasopharyngoscopy pulsations to identify medialization for 214 patients, the true‐positive rate was 53.9% (95%CI 27.5–79.2) and the false‐positive rate was 16.2% (95%CI 7.9–26.8). Nine of eleven studies (81.8%) recommended universal preoperative imaging of the ICAs in children with 22qDS undergoing VPD surgery. No cases of perioperative bleeding secondary to ICA injury were identified.ConclusionAlthough most studies endorse routine preoperative imaging to assess for ICA medialization in children with 22qDS undergoing VPD surgery, only a minority of these cases led to surgical modification. Additional studies are needed to compare outcomes in children with and without preoperative imaging given the low rates of ICA injury in the literature.Level of EvidenceN/A Laryngoscope, 2023

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22q11.2 Deletion: Surgical and Speech Outcomes of Patients With Velopharyngeal Insufficiency Treated With a Superiorly Based Pharyngeal Flap as the Primary Surgery

Cited by 11 publications

References 34 publications

Surgical Management of Submucous Cleft Palate by Radical Muscle Dissection Veloplasty: Speech Outcomes in Patients with 22q11.2 Deletion Syndrome

Surgical Management of Submucous Cleft Palate by Radical Muscle Dissection Veloplasty: Speech Outcomes in Patients with 22q11.2 Deletion Syndrome

Speech Outcomes and Velopharyngeal Function in Children Undergoing Submucous Cleft Palate Repair

Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery

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