Velopharyngeal Dysfunction and 22q11.2 Deletion Syndrome: A Longitudinal Study of Functional Outcome and Preoperative Prognostic Factors

Spruijt, Nicole E; Widdershoven, Josine; Breugem, Corstiaan C.; Speleman, Luciënne; Homveld, I.L.M.; Kon, Moshe; Molen, Aebele B. Mink van der

doi:10.1597/10-049

Cited by 27 publications

(19 citation statements)

References 79 publications

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“…Pharyngeal flap was the most frequently reported procedure (49.0% of studies, 64.3% patients), followed by sphincter pharyngoplasty (25.5% of studies, 23.7% patients), palatoplasty (16.7% of studies, 7.9% patients), and posterior pharyngeal wall augmentation (8.8% of studies, 4.1% patients). A number of studies described combination procedures, such as the Honig pharyngoplasty (velar retropositioning and pharyngeal flap; Honig, 1967; Spruijt et al, 2012b), Furlow and sphincter pharyngoplasty (Milczuk et al, 2007) or pharyngeal flap in conjunction with pushback palatoplasty (Park et al, 2000), buccinator flaps (Cochran et al, 1983) or IVV (Jarvis and Trier, 1988). Specific procedure details are included in Table 1.…”

Section: Resultsmentioning

confidence: 99%

Surgery for Velopharyngeal Dysfunction

Blacam

Smith

Orr

2017

The Cleft Palate Craniofacial Journal

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Objective: This systematic review sought to evaluate the consensus in the literature regarding the surgical management of VPD and to determine whether a particular procedure results in superior speech outcome or less morbidity Design: A systematic review was carried out according to PRISMA-P guidelines. Systematic review software was used to facilitate 3-stage screening and data extraction by 2 reviewers.Setting: University teaching hospital.Patients, Participants: Studies that reported perceptual speech assessment or obstructive sleep apnea (OSA) in patients who had undergone surgery for VPD were included in the review. Interventions: Four categories of surgery for VPD were examined-pharyngeal flap, sphincter pharyngoplasty, palatoplasty, and posterior pharyngeal wall augmentation.Main outcome measures: Perceptual speech assessment, need for further surgery, and occurrence of OSA were the outcomes of interest.Results: Eighty-three relevant studies were identified, comprising data on 4011 patients. Pharyngeal flap was the most common procedure (64% of patients). Overall, 70.7% of patients attained normal resonance and 65.3% attained normal nasal emission. There was no notable difference in speech outcomes, need for further surgery, or occurrence of OSA across the 4 categories of surgery examined. Heterogeneous groups of patients were reported upon and a variety of perceptual speech assessment scales were used. Conclusions: There is a lack of consensus in the literature to guide procedure selection for patients with VPD. The development of a standardized minimum data set to record postoperative speech, OSA, and patient-reported outcomes is required.

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Section: Resultsmentioning

confidence: 99%

Surgery for Velopharyngeal Dysfunction

Blacam

Smith

Orr

2017

The Cleft Palate Craniofacial Journal

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“…Because VPD and speech disorders in 22qDS are often severe and multifactorial, management of VPD in this population is more complex than in other cleft/VPD populations (Kirschner & Baylis, 2014;Nayak & Sell, 1998). There is ongoing debate regarding the optimal surgical approach for individuals with 22qDS and VPD (Mehendale, Birch, Birkett, Sell, & Sommerlad, 2004;Spruijt et al, 2012). In some instances, more than one surgical procedure may be required (Losken, Williams, Burstein, Malick, & Riski, 2003;Pryor et al, 2006;Witt, Cohen, Grames, & Marsh, 1999).…”

Section: Surgical and Nonsurgical Management Approachesmentioning

confidence: 99%

“…Some centers perform these studies routinely, whereas other centers do so only when there are concerns about persistent VPD at a significant interval after surgery (e.g., >1 year). In some cases, speech outcome may not be fully optimized until several years after surgery (Spruijt et al, 2012), as these children may have slower adaptation to a new VP mechanism as a function of motor deficits, cognitive difficulties, and other factors. Possible slower adaptation is important when considering the need for revision surgery and emphasizes the need for long-term follow-up in this population.…”

Section: Postoperative Considerationsmentioning

confidence: 99%

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Solot

Sell

Mayne

et al. 2019

Am J Speech Lang Pathol

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Purpose Speech and language disorders are hallmark features of 22q11.2 deletion syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities, velopharyngeal dysfunction, behavioral differences, and various medical and psychiatric conditions are also major features of this syndrome. The goal of this document is to summarize the state of the art of current clinical and scientific knowledge regarding 22qDS for speech-language pathologists (SLPs) and provide recommendations for clinical management. Method Best practices for management of individuals with 22qDS were developed by consensus of an expert international group of SLPs and researchers with expertise in 22qDS. These care recommendations are based on the authors' research, clinical experience, and literature review. Results This document describes the features of 22qDS as well as evaluation procedures, treatment protocols, and associated management recommendations for SLPs for the often complex communication disorders present in this population. Conclusion Early diagnosis and appropriate management of speech-language disorders in 22qDS is essential to optimize outcomes and to minimize the long-term effects of communication impairments. Knowledge of this diagnosis also allows anticipatory care and guidance regarding associated features for families, health care, and educational professionals.

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“…However, additional speech data, such as articulation, were not included for analysis in this study, and follow-up was limited. Previous studies have documented longer time for resolution of hypernasality postsurgically in patients with 22q11.2DS, and this may be attributed to a slower adaptation to a new VP mechanism secondary to motor speech deficits, cognitive difficulties, and other factors (Sprujit et al, 2012b).…”

Section: Discussionmentioning

confidence: 98%

Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation

Lee

Chang

Solot

et al. 2020

The Cleft Palate Craniofacial Journal

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Objective: To determine pre- and postoperative prevalence of obstructive sleep apnea (OSA) in patients with 22q11.2 deletion syndrome (DS) undergoing wide posterior pharyngeal flap (PPF) surgery for velopharyngeal dysfunction (VPD). Design: Retrospective study using pre- and postoperative polysomnography (PSG) to determine prevalence of OSA. Medical records were reviewed for patients’ medical comorbidities. Parents were surveyed about snoring. Setting: Academic tertiary care pediatric hospital. Patients: Forty patients with laboratory confirmed 22q11.2DS followed over a 6-year period. Interventions: Pre- and postoperative PSG, speech evaluation, and parent surveys. Main Outcome Measure: Severity and prevalence of OSA, defined by obstructive apnea hypopnea index (OAHI), before and after PPF surgery to determine whether PPF is associated with increased risk of OSA. Results: Mean OAHI did not change significantly after PPF surgery (1.1/h vs 2.1/h, P = .330). Prevalence of clinically significant OSA (OAHI ≥ 5) was identical pre- and postoperatively (2 of 40), with both cases having severe-range OSA requiring positive airway pressure therapy. All other patients had mild-range OSA. Nasal resonance was graded as severe preoperatively in 85% of patients. None were graded as severe postoperatively. No single patient factor or parent-reported concern predicted risk of OSA (OAHI ≥ 1.5). Conclusions: Patients with 22q11.2DS are medically complex and are at increased risk of OSA at baseline. Wide PPF surgery for severe VPD does not significantly increase risk of OSA. Careful perioperative planning is essential to optimize both speech and sleep outcomes.

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Velopharyngeal Dysfunction and 22q11.2 Deletion Syndrome: A Longitudinal Study of Functional Outcome and Preoperative Prognostic Factors

Abstract: In this chart review of patients with 22q11.2 deletion syndrome and velopharyngeal dysfunction, residual hypernasality persisted in many patients after velopharyngoplasty. None of the preoperative factors that were studied had prognostic value for the outcome.

Cited by 27 publications

References 79 publications

Surgery for Velopharyngeal Dysfunction

Surgery for Velopharyngeal Dysfunction

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation

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