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.