Percutaneous Enteral Feeding in Patients With 22q11.2 Deletion Syndrome.

OBJECTIVE: To describe the incidence of percutaneous enteral feeding in patients with 22q11.2 deletion syndrome (22q11.2 DS) and determine factors associated with the need for percutaneous enteral feeding tube placement. DESIGN: Retrospective chart review. METHODS: The records of a 22q11.2 DS clinic and pediatric otolaryngology clinic at a tertiary pediatric hospital were reviewed from January 1, 2009, to December 31, 2019. All patients with confirmed 22q11.2 deletion were identified. Cardiac, otolaryngological, and feeding characteristics were recorded along with surgical history. A patient was defined to have a G-tube if the history was significant for any percutaneous gastric feeding tube placement, including a gastrostomy tube, gastrostomyjejunostomy tube, or a Mickey button. RESULTS: One hundred ninety patients with confirmed 22q11.2 DS by genetic testing were included. Thirty-three percent (n = 63) required G-tube placement. G-tube placement was associated with cardiac diagnosis (P < .01), history of cardiac surgery (P < .01), aspiration (P < .01), nasopharyngeal reflux (P < .01), subglottic stenosis (P < .01), laryngeal web (P = .003), and tracheostomy (P < .01). This suggests these conditions are associated with higher rates of G-tube placement in the 22q11.2 DS population. CONCLUSIONS: Patients with 22q11.2 DS often require supplemental nutritional support in the form of G-tube feeding, most often in the first year of life. Congenital heart abnormalities and surgery along with tracheostomy, subglottic stenosis, laryngeal web, aspiration, and nasopharyngeal reflux are significantly associated with the need for G-tube placement. Understanding associations between comorbid conditions and G-tube placement, especially those involving the head and neck, may assist with counseling of patients with 22q11.2 DS.

Children's Visual Perception of Facial Scarring and Cleft Lip Deformity Using Eye Tracking Data.

OBJECTIVE: The purpose of this study is to determine children's perception of secondary cleft lip deformity (SCLD) using objective eye tracking technology and subjective responses on a survey to understand pediatric perceptions of facial scarring. DESIGN: Cross-sectional study of participants aged 5-17 years old. METHODS: Participants viewed images of children's faces with an eye tracking device. Sixteen images were displayed, 12 with unilateral SCLD and four with no facial scarring. Eye tracking data were obtained. Gaze samples were analyzed for areas of interest (AOIs). Immediately after viewing each image, participants answered two survey questions relating to facial asymmetry attitude toward the child pictured. For analysis, participants were divided into age groups. RESULTS: A total of 259 participants were enrolled (42.5% female). Mean age was 10.5 years and 78% identified as White. In all age groups, total fixation time was greater for SCLD compared to control images. Early elementary age children spent significantly less time assessing the nose AOI compared to other groups, and also spent the least total fixation time and had the lowest visit count on all AOIs. Subjective survey questions showed similar trends with elementary age not noticing facial asymmetry compared to older age groups. CONCLUSION: This study demonstrates the successful use of eye tracking technology in children as young as 5 years old. This study suggests that SCLD is perceived as less noticeable in elementary age children and becomes more noticeable to older groups. Understanding peer perception on SCLD from this study may impact decision on revision surgery for SCLD. LEVEL OF EVIDENCE: IV Laryngoscope, 134:2726-2733, 2024.

Unplanned Intensive Care Unit Admission Following Cleft Palate Repair by Head and Neck Surgeons.

OBJECTIVE: To examine the incidence of pediatric intensive care unit (PICU) admission following primary repair of cleft palate by otolaryngologist-head and neck surgeons at 2 tertiary centers. To identify potential diagnoses associated with admission or unanticipated PICU transfer. STUDY DESIGN: Multi-institutional case series with chart review. SETTING: Two tertiary pediatric medical centers. METHODS: Children who underwent primary repair of cleft palate at 2 cleft centers over a 10-year period were identified. Charts were reviewed for demographics, comorbidities, and whether PICU admission was required. RESULTS: From 2009 to 2019, 464 patients underwent primary repair of a cleft palate by 1 of 6 otolaryngologist-head and neck surgeons with subspecialty training in cleft surgery; 459 patients had sufficient postoperative documentation and 443 children met inclusion criteria. The incidence of PICU admission was 9.3% (41/443), with 33 (7.4%) planned admissions and 8 (1.8%) unexpected PICU transfers. Syndromic conditions were associated with both planned and unanticipated PICU admissions. CONCLUSION: The incidence of unanticipated postoperative PICU admission following cleft palate repair by otolaryngologist-head and neck surgeons was low. Risk stratification by surgeons with expertise in airway management may inform decisions regarding postoperative disposition of patients with medical or airway complexity who are undergoing cleft palate repair.

The Safety and Efficacy of Mandibular Distraction Osteogenesis Among Infants Less Than 3 kg.

OBJECTIVES/HYPOTHESIS: Mandibular distraction osteogenesis (MDO) is a safe and effective surgery to address respiratory and feeding issues due to micrognathia in patients with Robin Sequence (RS). Previous studies examining postoperative complications in neonates receiving MDO have considered 4 kg as the cut-off for low weight; however, an increasing number of MDO interventions are performed in infants <4 kg. To determine if a weight <3 kg at time of MDO is a risk factor for postoperative complications or need for subsequent tracheostomy or gastrostomy tube (G-tube). STUDY DESIGN: Retrospective chart review. METHODS: A retrospective review of all infants <6 months of age undergoing MDO at two tertiary pediatric hospitals from 2008 to 2018. Demographic data, syndromic status, weight, and age at time of surgery, length of postoperative hospital stay, and postoperative outcomes were recorded including tracheostomy placement, G-tube placement, hardware infection, reintubation, facial/marginal mandibular nerve damage, and need for revision MDO. RESULTS: Sixty-nine patients with RS were included. The mean age at MDO was 25 ± 20 days and mean weight was 3.32 ± 0.44 kg. There was no statistically significant correlation between weight (P = .699) or age (P = .422) and unfavorable postoperative outcomes. No patients (0%) underwent tracheostomy pre-MDO. Two patients (2.9%) required tracheostomy postsurgery; neither was <3 kg. Eight patients (11.6%) required a G-tube postoperatively. CONCLUSION: Newborns <3 kg who undergo MDO experience the same rates of success and complication as larger infants, suggesting that MDO is a safe and efficacious procedure in infants less than 3 kg. Laryngoscope, 132:1295-1299, 2022.

Cleft Palate Repair by Otolaryngologist-Head and Neck Surgeons: Risk Factors for Postoperative Fistula.

OBJECTIVES/HYPOTHESIS: To assess the incidence of palatal fistula after primary repair of the cleft palate among two cohorts of Otolaryngologist-Head and Neck Surgeons and to identify patient and surgeon characteristics that may predict fistula development. STUDY DESIGN: Retrospective case series with chart review. METHODS: Children who underwent primary repair of cleft palate at one of two multidisciplinary cleft centers over a 10 year period were identified. Charts were reviewed for the presence of palatal fistula; chi square test and multivariate logistic regression analysis were performed to determine variables associated with fistula formation. RESULTS: From 2007 to 2017, 477 patients underwent primary repair of cleft palate by one of 6 Otolaryngologist-Head and Neck Surgeons. Twenty-four children had incomplete charts, allowing 453 patients to be included in the final analysis. The pooled mean incidence of palatal fistula was 6.6% (P = .525) and varied significantly by cleft type. Logistic regression analysis controlling for multiple variables, showed that Veau IV classification had the highest risk of fistula (OR = 10.582; P = .004). Repair by a specific surgeon was not a significant risk factor for fistula development (P > .07 for each surgeon). CONCLUSIONS: Among six Otolaryngologist-Head and Neck Surgeons with fellowship training in cleft palate repair postoperative fistula rates were consistent and compared favorably to standards in the Cleft and Craniofacial surgery literature established by other surgical specialties. Consistent with larger database studies involving multiple surgical specialties, Veau IV classification was the strongest predictor of palatal fistula development, even after adjusting for multiple variables, including differing levels of experience. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:1281-1285, 2021.

Detection of Chronic Hypoventilation Among Infants With Robin Sequence Using Capillary Blood Gas Sampling.

OBJECTIVES/HYPOTHESIS: To describe the use of capillary blood gas (CBG) sampling to detect and quantify hypoventilation in infants with Robin sequence (RS). METHODS: Case series with chart review at two institutions. Infants with RS presenting over a 10-year period were identified using departmental databases. CBG values obtained during infancy or until airway intervention (AI) were reviewed. RESULTS: From 2008 to 2018, 111 infants with RS were identified as having had been assessed and managed from birth or transfer until discharge home and having CBG data available. In most cases, CBG sampling was obtained every other day until intervention or discharge. A total of 81 (73%) infants required AI: 72 (89%) underwent mandibular distraction osteogenesis, five (6%) underwent tracheotomy, and four (5%) were discharged home with a nasopharyngeal airway. The mean PCO2 at day of life (DOL) 7-30 for the AI group was 52.7 mmHg (95% confidence interval: 51.7-53.7) and for the no AI group was 45.9 mmHg (44.8-47.0; P < .0001). The mean HCO3 at DOL 7-30 for the AI group was 29.8 mEq/L (29.4-30.1) and for the no AI group was 27.0 mEq/L (26.5-27.4; P < .0001). Receiver operating characteristic curves were created for maximum PCO2 and HCO3 values and cutoffs were established by optimizing a balance of sensitivity and specificity. Infants requiring AI surpassed the PCO2 and HCO3 cutoff at a median of DOL 9. CONCLUSIONS: Among infants with RS and hypoventilation, objective measures of respiratory acidosis may be apparent by DOL 9. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:2789-2794, 2021.

Multimodal Imaging Characteristics and Diagnostic Approach to Ancient Schwannoma in a Pediatric Patient.

Ancient schwannoma is an extremely rare benign, peripheral nerve sheath tumor. Despite its benign nature, its characteristic heterogeneous appearance and degenerative changes commonly lead to misdiagnosis of malignancy. Although schwannomas are extremely uncommon in the pediatric population, these neoplasms have been associated with underlying conditions such as neurofibromatosis type two, and appropriate recognition is important to ensure close monitoring of potential future symptoms secondary to other tumors. We report the imaging and laboratory findings of an ancient schwannoma of the vagus nerve in a 10-year-old female, the first documented case of such a tumor in a pediatric patient, and discuss its characteristic findings and diagnostic considerations. Awareness of this rare tumor can help promote correct diagnosis and avoidance of costly, high-risk diagnostic methods.

Congenital and iatrogenic laryngeal and vocal abnormalities in patients with 22q11.2 deletion.

BACKGROUND: Voice abnormalities often go unrecognized in patients with 22q11.2 deletion because speech abnormalities become the focus of evaluation. OBJECTIVE: To analyze voice and vocal fold abnormalities in patients with 22q11.2 deletion by examining voice, not speech. METHODS: This is a case series with chart review from 2009 to 2016. Records of both a velocardiofacial syndrome (VCF) clinic and pediatric otolaryngology clinic at a tertiary pediatric hospital were reviewed. All patients with confirmed 22q11.2 deletion were identified. Cardiac, otolaryngological, speech, and voice characteristics were recorded along with surgical history. Main outcomes included voice characteristics based on speech therapy assessment, along with vocal fold or laryngeal abnormalities. Co-morbidities and surgical history were also recorded. RESULTS: 109 patients were identified with 22q11.2 deletion by genetic testing. Eighteen percent (n = 20) displayed a vocal fold or laryngeal abnormality, either congenital or iatrogenic. The most common congenital abnormalities were laryngeal web (n = 10) and subglottic stenosis (n = 7). The most common iatrogenic abnormality was paralyzed left vocal fold (n = 4). Perceptual analysis by speech therapy showed 65% (n = 71) with a voice within normal limits while 17% (n = 19) were not within normal limits. Of the 20 patients with a vocal fold abnormality, 15% (n = 3) presented a voice within normal limits, while 65% (n = 13) were not within normal limits. Of the 19 patients with a voice outside normal limits, 68% (n = 13) had a diagnosed vocal fold abnormality. Sixteen percent (n = 3) of these patients had an abnormal voice as a result of other issues. CONCLUSION: Out of 109 patients with 22q11.2 deletion, 18% displayed a laryngeal abnormality and 17% had abnormal vocal quality. This suggests that voice and vocal fold abnormalities are important to consider in this population. Distinguishing between speech and voice abnormalities in patients with 22q11.2 deletion can help ensure appropriate intervention.

Upper airway obstruction in neonates: Does sleep exacerbate symptoms?

OBJECTIVE: Describe the factors that exacerbate upper airway obstructions (UAOs) in neonates. STUDY DESIGN: Retrospective chart review. SETTING: Pediatric tertiary care hospital. SUBJECTS AND METHODS: All neonates hospitalized between 1/1/2010 and 12/31/2014 diagnosed with either: 1) laryngomalacia, 2) Pierre Robin sequence, or 3) vocal cord paralysis were included in this study. Patient charts were reviewed to determine factors that exacerbated symptoms of airway obstruction. The independent variable was patient diagnosis, and the outcome measure was exacerbating factors. RESULTS: In patients with laryngomalacia (n = 31), 41.9% worsened with agitation, 38.7% worsened with feeding, 16.1% worsened with positioning, 0.0% worsened during sleep, and 25.8% had no aggravating factors. In Pierre-Robin patients (n = 31), 48.4% worsened with agitation, 16.1% worsened with feeding, 61.3% worsened with positional changes, 0.0% worsened during sleep, and 12.9% had no aggravating factors. In vocal cord paralysis patients (n = 25), 72.0% worsened with agitation, 8.0% worsened with feeding, 20.0% worsened with positional changes, 4.0% worsened during sleep, and 24.0% had no aggravating factors. CONCLUSION: Airway obstruction was not reliably exacerbated during sleep for any of the diagnoses studied in this review. Our findings show that agitation exacerbates airway obstruction in most patients with vocal cord paralysis, and positioning exacerbates airway obstruction in the majority of patients with PRS. Aggravating factors in laryngomalacia are variable. These findings question the utility of polysomnography as a diagnostic tool for hospitalized neonates with these conditions. LEVEL OF EVIDENCE: 4.