Predictors of Respiratory Dysfunction at Diagnosis of Robin Sequence.

OBJECTIVES/HYPOTHESIS: Robin sequence (RS) consists of associated micrognathia, glossoptosis, and respiratory dysfunction, with or without cleft palate. Studies on how different patient characteristics impact the severity of respiratory dysfunction are scarce and contradictory; this study investigates how different features affect respiratory obstruction severity at diagnosis of RS in controlled analysis. STUDY DESIGN: Retrospective cohort study that enrolled 71 RS patients under 90 days old who received care in our institution from 2009 to 2020. METHODS: The primary outcome, respiratory dysfunction, was categorized into four severity groups and analyzed using a multinomial logistic regression model that considered age, sex, mandible length, cleft palate, syndromic diagnosis, other airway anomalies, and degree of glossoptosis. RESULTS: Mandible length, syndromic diagnosis, and Yellon grade 3 glossoptosis were related to poorer respiratory outcomes (need for respiratory support). In univariate analysis, for each additional 1 mm of mandible length at diagnosis, a mean reduction of 28% in the risk of needing respiratory support was observed (OR = 0.72; 0.58-0.89); syndromic diagnosis and grade 3 glossoptosis also raised the risk (OR = 6.50; 1.59-26.51 and OR = 12.75; 1.03-157.14, respectively). In multivariate analysis, only mandible length significantly maintained its effects (OR = 0.73; 0.56-0.96), a 27% reduction. CONCLUSIONS: Mandible length was an independent predictor for more severe respiratory dysfunction in RS patients, with larger mandibles showing protective effects. Syndromic diagnosis and Yellon grade 3 glossoptosis are also likely to be associated with poorer respiratory outcomes, although this was not demonstrated in multivariate analysis. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:2811-2816, 2021.

Diagnostic accuracy of current glossoptosis classification systems: A nested cohort cross-sectional study.

OBJECTIVES/HYPOTHESIS: To assess the performance of endoscopic grading systems of glossoptosis in identifying severe clinical manifestations in children with Robin sequence (RS). STUDY DESIGN: Nested cohort cross-sectional study. METHODS: All RS patients diagnosed at Hospital Clinics of Porto Alegre from October 2012 to June 2016 were enrolled in this cohort. Patients underwent sleep endoscopy and were classified according to Yellon (Y) and de Sousa et al. (S) scales. Symptom severity evaluation was performed as defined by Cole et al. The outcome of interest was Cole's clinical classification grade 3. RESULTS: Eighty patients were eligible for analysis. Sensitivity (Y: 56.2%, S: 28.1%, P < .001) and specificity (Y: 85.4%, S: 93.8%, P = .038) in identifying severe clinical symptoms patients (i.e., Cole grade 3) were statistically different between Y and S classifications. A low but significant overall correlation was observed for both Y (rho = 0.372, P < .001) and S (rho = 0.439, P < .001) classifications when compared with Cole classification. Diagnostic odds ratio (DOR) for Y (DOR: 7.53, 95% confidence interval [CI]: 4.15-10.90) and S (DOR: 5.87, 95% CI: 1.86-9.87) were equivalent (P = .92). Also, receiver operating characteristic curves area under the curve were not significantly different between them. The positive likelihood ratio was 3.86 (95% CI: 1.82-8.16) and 4.50 (95% CI: 1.32-15.36) for Y and S, respectively. CONCLUSIONS: Y and S grading systems showed a low sensitivity and moderate to high specificity in detecting patients with severe clinical manifestations. Correlation between Y/S and Cole et al. grading were also considered low. Development of a more discriminative anatomic grading system is still needed for this specific disorder. LEVEL OF EVIDENCE: 2b. Laryngoscope, 128:502-508, 2018.

Glossoptosis.

Glossoptosis causes varying degrees of airway obstruction and feeding difficulties. It can occur as a consequence of micrognathia in Robin Sequence, but can also occur in children with hypotonia. Despite several attempts to classify severity in Robin Sequence patients, taking into account symptoms, presence of concomitant syndromes or malformations, and even endoscopic findings, there is still no general consensus. Furthermore, several management recommendations have been reported without an agreement about indications, efficacy, or risks of each treatment option. The present article provides an overview of clinical presentation, diagnosis, management, and prognosis of patients with glossoptosis.

Awake Flexible Fiberoptic Laryngoscopy to diagnose glossoptosis in Robin Sequence patients.

BACKGROUND: Robin Sequence (RS) is usually defined as the combination of micrognathia, glossoptosis and upper airway obstruction. No objective criteria to diagnose RS exist. To compare management strategy results, a single RS definition using objective criteria is needed. The most frequently used primary diagnostic tool for glossoptosis is awake Flexible Fiberoptic Laryngoscopy (aFFL). OBJECTIVES: To determine the reliability of the aFFL videos as an independent diagnostic tool itself, rather than on the complete evaluation of a patient. DESIGN, SETTING, PARTICIPANTS: All RS individuals from an existing cohort with an available aFFL video were included retrospectively. Thirty age-matched patients without pathologic findings on aFFL were used as controls. aFFL videos were scored by six otolaryngologists as: a. Marked glossoptosis, b. Mild glossoptosis, c. Severity unknown, d. No glossoptosis, e. Insufficient video quality. Videos were anonymised and rated twice, in altered sequences, after a washout period of minimally 2 weeks. MAIN OUTCOME MEASURES: Inter-rater and intrarater agreement. RESULTS: Twenty-six videos of 16 RS patients and 30 videos of controls were included. Inter-rater agreement was fair in the whole group (κ: 0.320) and RS group (κ: 0.226), and fair to moderate in determining presence of glossoptosis (total group κ: 0.430; RS κ: 0.302; controls κ: 0.212). The intrarater agreement for the presence of glossoptosis in RS was moderate (κ: 0.541). CONCLUSIONS: aFFL offers fair to moderate inter-rater agreement, with moderate intrarater agreement, in evaluating glossoptosis in RS. Using aFFL as the single tool in choosing management strategies in RS seems insufficient. There is need for a more reliable, patient friendly diagnostic tool or an internationally accepted aFFL scoring system, to diagnose glossoptosis in RS.

Will the right Robin patient rise, please? Definitions and criteria during management of Robin sequence patients in the Netherlands and Belgium.

BACKGROUND: Robin Sequence (RS) is characterized by micrognathia and upper airway obstruction (UAO), with or without cleft palate, causing respiratory and feeding problems. Management options are: positioning; nasopharyngeal airway (NPA); tongue-lip adhesion (TLA); mandibular distraction (MDO); and tracheostomy. Controversy exists in literature regarding RS definition and management. Here we describe definitions, management strategies and criteria in opting for management strategies, used by Dutch and Belgian cleft teams. METHODS: A specifically designed questionnaire was sent to members of all 16 Dutch and Belgian cleft teams. RESULTS: 14 cleft teams returned 35 questionnaires. All used micrognathia as definition criterion, 93.4% cleft palate, 51.5%glossoptosis and 45.7% UAO. Six different RS definitions were used; even within a single team >1 definition was used. All teams used different management strategies: all used positioning, 10 NPA, 6 TLA, 7 MDO, 8 tracheostomy, 5 refer patients with invasive treatment indication. Criteria in opting management modalities were: O2-saturation (89.3%), clinical presentation (86.2%), growth and feeding problems (69.0%), polysomnography (62.1%), and differed within teams. CONCLUSION: The Dutch and Belgian cleft teams use variable RS definitions, different management modalities and criteria in choosing management strategies. A single, strict definition and evidence-based management guidelines should be formulated for optimal patient care.

Ex utero intrapartum treatment of fetal micrognathia.

BACKGROUND: Ex utero intrapartum treatment (EXIT) procedures have emerged as a viable option for potentially life-saving procedures in fetuses with predicted airway compromise at birth. The ability to maintain maternal-fetal uteroplacental perfusion allows for prolonged procedures in a stable fetal hemodynamic environment thereby avoiding neonatal hypoxemia or sequelae of an emergent tracheostomy. CASE: A 26-year-old female presents with a 20-week ultrasound and subsequent magnetic resonance imaging demonstrating severe fetal micrognathia (jaw index below the 5th percentile), glossoptosis, polyhydramnios, absence of a gastric bubble, and suspected microtia concerning for Treacher Collins syndrome. An EXIT procedure was completed with successful intrapartum endotracheal intubation with a flexible fiber-optic bronchoscope through a laryngeal mask airway. CONCLUSION: This case represents the first EXIT procedure completed at Naval Medical Center San Diego. Although this case is unique, the clinical skills and coordination of care required to perform this procedure are exemplified in our daily practice of stabilizing, transporting, and definitively treating our wounded warriors. The ability to work in coordination across multiple armed services to provide the EXIT procedure to our military families, for potentially life-saving procedures, is a true testament to the current state of Military Medicine.