Robin Sequence Facial Profile After Conservative Treatment: A Long-Term Follow-Up.

INTRODUCTION: Robin sequence (RS) is a congenital clinical condition characterized by micrognathia, glossoptosis, and respiratory distress. Conservative methods could be responsible for releasing feeding and respiratory impairment but little information about mandibular growth is known in long-term follow-up. OBJECTIVE: Assessing the longitudinal behavior of the facial profile of individuals with isolated RS who underwent conservative micrognathia treatment using photographs during the whole craniofacial growth. METHODS: Photographs of the right facial profile of 100 patients were used (50 individuals with isolated RS and 50 individuals without craniofacial anomaly). The individuals with RS were evaluated at 3 different times (T1: infant, T2: mixed dentition, T3: permanent dentition) by measuring the facial convexity angle (FCA; G.Sn.Pog´). A comparison between T3 and control group (C), individuals without craniofacial anomalies and in permanent dentition, was also performed, checking the FCA, nasolabial angle (Ls.Sn.Cm), mentolabial fold (Li.Si.Pog´), facial inferior third (Sn.Gn´.C) angles and the ratio between middle anterior facial height and lower anterior facial height. RESULTS: The T3 group showed an increased angle of facial convexity and increased facial inferior third angle and middle anterior facial height/lower anterior facial height ratio compared with the control group. In the longitudinal evaluation of individuals with isolated RS, significant differences were identified between T1 and T2 groups and T1 and T3 groups showing that the increased facial convexity was higher in the infants and that did not change significantly between the phases of mixed and permanent dentition. CONCLUSIONS: RS showed increased facial convexity in all phases evaluated, but their convexity decreased with growth. When compared with individuals without craniofacial anomalies, the individuals continue to exhibit retrognathism in the permanent dentition. The lack of a mandible projection has led to a considerable number of orthognathic surgeries for the correction of discrepancies.

Developmental outcome of children with Robin sequence treated with the current Paris protocol.

AIM: We aimed to investigate the developmental outcome of children with Robin sequence (RS) for whom continuous positive airway pressure was the main strategy to release upper airway obstruction. METHODS: We included children with isolated RS or RS associated with Stickler syndrome who were aged 15 months to 6 years. We used the French version of the Child Development Inventory and calculated the developmental quotient (DQ) for eight different domains and the global DQ (DQ-global). We searched for determinants of risk of delay. RESULTS: Of the 87 children, for 71%, the developmental evolution was within the norm (DQ-global ≥86 or ≥-1 SD), 29% were at high risk of delay (DQ-global <86 or <-1 SD), and only 3% were at very high risk of delay (DQ-global <70 or <-2 SD). The DQs for expressive language and language comprehension were lower in our study population than the general population, but an improvement was noticed with the children's growth. CONCLUSION: Risk of a developmental delay was not greater for children with the most severe respiratory phenotype than the others. Children whose mothers had low education levels were more at risk than the others.

Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence.

BACKGROUND: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis and upper airway obstruction. Diagnosis and treatment are characterized by heterogeneity, resulting in a lack of uniformly collected data. METHODS: We have set up a prospective, observational, multicenter, multinational registry aimed at obtaining routine clinical data from RS patients receiving different treatment approaches and enabling an assessment of outcomes obtained through different therapeutic approaches. Patient enrolment has started in January 2022. Disease characteristics, adverse events and complications depending on the different diagnostic and treatment approaches and their effects on neurocognition, growth, speech development and hearing outcome are evaluated using routine clinical data. In addition to characterizing the patient population and comparing outcomes achieved with different treatment approaches, the registry will evolve to focus on endpoints such as quality of life and long-term developmental status. DISCUSSION: This registry will provide data on different treatment approaches collected during routine care with diverse framework conditions and will allow assessing diagnostic and therapeutic outcomes of children with RS. These data, urgently demanded by the scientific community, may contribute to refining and personalizing existing therapeutic approaches and increase knowledge about the long-term outcome of children born with this rare condition. TRIAL REGISTRATION: DRKS00025365.

Rare syndromes in dentistry Part 1: The Pierre Robin sequence: a focus on a rare congenital anomaly.

AIM: The aim of this paper was to enlighten the peculiar findings of the Pierre Robin sequence, a rare congenital anomaly with important afterbirth comorbidities. The management of this pathology requires highly specialised centers and highly qualified specialists in order to offer the best therapeutic strategy to the affected child. Early diagnosis and parental counseling play a key role in the managing of PRS: an earlier activation of the treatment path helps to yield better outcomes and to prevent complications. A case of a newborn affected by PRS is presented, showing the steps of the treatment strategy and the final outcome.

A Prospective Observational Crossover Study Comparing Intubation by Pediatric Residents Using Video Laryngoscopy and Direct Laryngoscopy on a Pierre Robin Simulation Manikin.

INTRODUCTION: Video laryngoscopy (VL) has been proposed to increase the likelihood of successful intubation in patients with predicted difficult airways such as those with Pierre Robin sequence (PRS). Prior studies have focused on the performance of anesthesiologists, who are generally considered airway experts. Our primary aim was to investigate the success rate of intubation using VL compared with direct laryngoscopy (DL) when attempted by pediatric residents on a PRS model. METHODS: Participants were administered a 5-minute refresher video on 2 VL techniques (CMAC, conventional geometry VL, and McGrath, unconventional geometry VL) and DL. The participants were asked to intubate the AirSim PRS infant manikin. The order of VL and DL use was randomly selected. All intubations were video recorded, and the recordings were analyzed by 3 anesthesiologists blinded to the participant's identity and previous experience. RESULTS: Seventeen of 23 residents succeeded in intubating the PRS model using DL. Only 9 residents succeeded in intubating the PRS model using VL (conventional or unconventional geometry). Intubation success rate was higher when comparing DL with VL ( P = 0.04) and similar when comparing VL devices ( P = 0.69). DISCUSSION: Contrary to expectation, the intubation success rate was lower using VL than with DL among pediatric residents. This should be considered when designing residency training and in real-life resuscitation.

Differences in analysis and treatment of upper airway obstruction in Robin sequence across different countries in Europe.

The goal of this study was to explore the availability of diagnostic and treatment options for managing upper airway obstruction (UAO) in infants with Robin Sequence (RS) in Europe. Countries were divided in lower- (LHECs, i.e., PPP per capita < $4000) and higher-health expenditure countries (HHECs, i.e., PPP per capita ≥ $4000). An online survey was sent to European healthcare professionals who treat RS. The survey was designed to determine the availability of diagnostic tools such as arterial blood gas analysis (ABG), pulse oximetry, CO2 analysis, polysomnography (PSG), and sleep questionnaires, as well as to identify the used treatment options in a specific center. Responses were received from professionals of 85 centers, originating from 31 different countries. It was equally challenging to provide care for infants with RS in both LHECs and HHECs (3.67/10 versus 2.65/10, p = 0.45). Furthermore, in the LHECs, there was less access to ABG (85% versus 98%, p = 0.03), CO2 analysis (45% versus 70%, p = 0.03), and PSG (54% versus 93%, p < 0.01). There were no significant differences in the accessibility concerning pulse oximetry, sleep questionnaires, home saturation monitoring, nasopharyngeal tubes, Tuebingen plates, and mandibular distraction.    Conclusion: This study demonstrates a large difference in available care for infants with RS throughout Europe. LHECs have less access to diagnostic tools in RS when compared to HHECs. There is, however, no difference in the availability of treatment modalities between LHECs and HHECs. What is Known: • Patients with Robin sequence (RS) require complex and multidisciplinary care. They can present with moderate to severe upper airway obstruction (UAO). There exists a large variety in the use of diagnostics for both UAO treatment indications and evaluations. In most cases, conservative management of UAO in RS is sufficient. Patients with UAO that persist despite conservative management ultimately need surgical intervention. To determine which intervention is best suitable for the individual RS patient, the level of UAO needs to be determined through diagnostic testing. • There is a substantial variation among institutions across Europe for both diagnostics and treatment options in UAO. A standardized, internationally accepted protocol for the assessment and management of UAO in RS could guide healthcare professionals in the timing of assessment and indications to prevent escalation of UAO. Creating such a protocol might be a challenge, as there are large financial differences between countries in Europe (e.g., health expenditure per capita in purchasing power parity in international dollars ranges from $600 to over $8500). What is New: • There is a substantial variation in the availability of objective diagnostic tools between European countries. Arterial blood gas analysis, CO2 analysis and polysomnography are not equally accessible for lower-healthcare expenditure countries (LHECs) compared to higher-healthcare expenditure countries (HHECs). These differences are not only limited to availability; there is also a difference in quality of these diagnostic tools. Surprisingly, there is no difference in access to treatment tools between LHECs and HHECs. • There is national heterogeneity in access to tools for diagnosis and treatment of RS, which suggests centralization of health care, showing that specialized care is only available in tertiary centers. By centralization of care for RS infants, diagnostics and treatment can be optimized in the best possible way to create a uniform European protocol and ultimately equal care across Europe. Learning what is necessary for adequate monitoring could lead to better allocation of resources, which is especially important in a low-resource setting.

Identification of micrognathia by prenatal ultrasound may improve timely diagnosis and management of infants with Robin sequence.

OBJECTIVE: Robin sequence (RS) is a craniofacial anomaly characterized by small jaw (micrognathia) with associated tongue base airway obstruction. With advances in fetal imaging, micrognathia may be detected prenatally. This study aims to determine if prenatal recognition of micrognathia offers any advantage over being unaware of the condition until after delivery and to assess if prenatal consultation for micrognathia adds benefits beyond merely noting the presence of the condition. METHOD: Retrospective chart review examining cases from 01/01/2010 to 12/31/2020 at an urban tertiary medical center. RESULTS: Forty seven infants with RS were included. 40.4% (n = 19) had micrognathia/retrognathia noted on prenatal ultrasound. 47.4% (n = 9) of those 19 pregnancies saw a maternal fetal medicine (MFM) program with craniofacial consultation. Compared to 28 infants not diagnosed with micrognathia until after birth, the 19 infants identified prenatally required fewer transfers from birth hospital (p = 0.02). Additionally, those referred to MFM with craniofacial consultation had shorter lengths of stay when airway intervention was required (p = 0.05). CONCLUSION: Prenatal recognition of micrognathia may lead to early detection and management of RS. When RS is suspected, prenatal consultation with MFM and craniofacial team may further optimize care of the infant following delivery.

Pre-Epiglottic Baton Plate in the Management of Upper Airway Obstruction in an Infant with Femoral Facial Syndrome: A Case Report.

Femoral facial syndrome (FFS) is a rare condition which may present with hypoplasia or aplasia of the femora and unusual facies characterized by long philtrum, thin upper lip and micrognathia. We present the case of a ten-month old infant with FFS who had retroglossal obstruction and who was treated with a pre-epiglottic baton plate. The pre-epiglottic baton plate can be a simple, non-invasive and effective tool for the clinical management of syndromic patients with mild-to-moderate upper airway obstruction due to micrognathia.

Disruptive Therapy Using a Nonsurgical Orthodontic Airway Plate for the Management of Neonatal Robin Sequence: 1-Year Follow-up.

We recently published the 3-month follow-up of 2 neonates with Robin sequence whose mandibular hypoplasia and restricted airway were successfully treated with an orthodontic airway plate (OAP) without surgical intervention. Both infants were successfully weaned off the OAP after several months of continuous use. We present the course of OAP treatment in these patients with a focus on breathing, feeding, and facial growth during their first year of life. Both infants demonstrated stable mandibular projection, resolution of obstructive sleep apnea, and normal development.

Sleep and neurocognitive outcome in primary school children with Robin Sequence.

STUDY OBJECTIVES: To investigate neurocognitive and behavioral outcomes at primary school age in relation to obstructive sleep apnea (OSA) in children with Robin sequence (RS) treated with the Tuebingen palatal plate in infancy and to assess the impact of OSA in these patients. METHODS: Forty-two primary school-aged children (n = 21 with RS, n = 21 age- and sex-matched controls) underwent polysomnography, intelligence testing ("Wechsler Intelligence Scale for Children-Fifth Edition" [WISC-V]), and anthropometrics. Families completed a 7-day sleep diary and questionnaires on sleep and behavior (Children's Sleep Habits Questionnaire [CSHQ] and the Child Behavior Checklist [CBCL]). RESULTS: In children with RS (17 non-syndromic, four syndromic; median age 9.7 [8.5-10.8] years), the obstructive apnea-hypopnea index (OAHI) was significantly higher than in controls (1.3 [0.4-2.7]/h vs. 0.4 [0.1-0.6]/h). Two syndromic children with RS were already on nocturnal respiratory support for OSA prior to our study, and one non-syndromic child was diagnosed with severe OSA (OAHI 57/h) despite an unremarkable medical history and questionnaire. The overall intelligence quotient in children with RS was within the normal range and did not differ between children with RS and healthy peers (102 vs. 108, p = .05). However, children with RS had values in the at-risk clinical range for externalizing behavior. CONCLUSIONS: These children with RS showed an increased risk of OSA and behavioral problems, suggesting regular screening for OSA throughout childhood. Neurocognitive scores in children with RS were within the normal range after adequate treatment of OSA during infancy.

Nonsurgical Orthodontic Airway Plate Treatment for Newborns With Robin Sequence.

Despite promising outcomes for >50 years, nonsurgical orthodontic airway plates (OAP) are only infrequently offered for babies with Robin sequence in a few parts of the world. This article demonstrates possibility of providing functional improvement using an OAP to help these babies overcome their functional and structural difficulties on their own. Two consecutively treated cases are presented exemplifying that OAP treatment that had originated from Europe is reproducible and effective in an institution in the United States.

Positioning as a conservative treatment option in infants with micrognathia and/or cleft.

Evaluation and management of airway obstruction in prone position were reviewed from studies in infants with micrognathia and/or cleft palate, using polysomnography (PSG) or similar measures, and comparing prone against other positions. Most studies identified were case series from specialist referral centres. Airway obstruction appears more severe on PSG than clinical assessment, but there is no consensus for PSG definitions of mild, moderate or severe airway obstruction. Infants show individual variability in responses to positioning; sleep quality tends to improve when prone, but 22-25% have better respiratory outcomes when supine. Most centres recommend home monitoring if advising that an infant be placed prone to manage their airway obstruction. In conclusion, in case series, success rates for managing infant airway obstruction by prone positioning vary from 12 to 76%. PSG studies comparing prone with other sleep positions can help differentiate which infants show improved airway obstruction and/or sleep quality when positioned prone.

A parent's view on the care of their baby with Robin sequence.

A Robin sequence parent presents the view that Robin sequence healthcare providers are engaging in practices which may be outdated, excessively invasive, and unnecessarily detrimental to quality of life, and proposes possible areas of research to improve patient outcomes.

Managing infants with craniofacial malformations - Where to go next?

Treatment of infants with craniofacial malformations, e.g. Robin sequence, is characterized by considerable heterogeneity and a lack of randomized trials to identify an optimal approach. We propose to establish an international register using a common minimal dataset that will better allow for a comparison between key determinants and outcomes in these patients. In infants, this should include an assessment of mandibular micrognathia, glossoptosis, upper airway obstruction, weight gain and mode of feeding. Later on, neurocognition, speech development, hearing and quality of life should also be included. Together, these data will help better to advice parents on which treatment to choose for their baby with a craniofacial malformation.

Customized Pre-Epiglottic Baton Plate-A Practical Guide for Successful, Patient-Specific, Noninvasive Treatment of Neonates With Robin Sequence.

OBJECTIVE: Despite its efficiency and benefits in treating patients with Robin sequence (RS), the pre-epiglottic baton plate (PEBP) is not widely used. However, its acceptance might improve with specific defined parameters for indication and proper design of the velar extension. We present our 13-year, single-center experience in treating infants with RS using PEBP, focusing on the description and insertion of an endoscopically guided PEBP design along with its complications and limitations. DESIGN AND INNOVATION: We recommend PEBP as primary treatment for RS, suggesting a new approach of design adjustment based on endoscopic findings of multilevel upper airway obstruction. SETTING: Department of cleft lip and palate. PATIENTS: Infants with isolated or syndromic RS, period 2010 to 2019. INTERVENTIONS: Pre-epiglottic baton plate treatment, intravelar veloplasty, and hard palate closure after initial PEBP treatment. RESULTS: We treated 132 infants (isolated RS, 111; syndromic RS, 21) with PEBP. All infants with isolated RS were discharged within an average of 8 days of PEBP therapy. For them, no tracheotomy or tongue-lip adhesion procedures were needed. Only 4 of the 20 infants discharged with a nasogastric tube needed it for >2 weeks. Intravelar veloplasty and palate closure were performed after 3 and 6 months of initiating PEBP treatment, respectively. CONCLUSIONS: Application of an orthodontic device in RS therapy has not been accepted worldwide. We hope that our learning curve and recommendations about PEBP will help the implementation of this highly effective and nonsurgical treatment option.

Long-Term Orthognathic Considerations in the Pierre Robin Sequence Patient.

BACKGROUND: One of the arguments against early intervention for micrognathia in Pierre Robin sequence is the concept that the growth of the mandible will eventually "catch up." Long-term growth of the mandible and occlusal relationships of conservatively managed Pierre Robin sequence patients remain unknown. In this study, the authors evaluated the orthognathic surgery requirements for Pierre Robin sequence patients at skeletal maturity. METHODS: Orthognathic surgical requirements of conservatively managed Pierre Robin sequence and isolated cleft patients (aged ≥13 years) at two institutions were reviewed and analyzed using t test, chi-square test, and Fisher's exact test. Values of p < 0.05 were considered statistically significant. RESULTS: Of the Pierre Robin sequence patients (n = 64; mean age ± SD, 17.9 ± 2.9 years), 65.6 percent were syndromic (primarily Stickler and velocardiofacial syndrome), 96.9 percent had a cleft palate, and 39.1 percent required orthognathic surgery at skeletal maturity. Nonsyndromic and syndromic Pierre Robin sequence patients demonstrated no differences in occlusal relationships or mandibular surgery frequency. The majority of Pierre Robin sequence patients requiring mandibular advancement had a class II occlusion. Comparison of Pierre Robin sequence patients to isolated cleft palate patients (n = 17) revealed a comparable frequency of orthognathic surgery between the two; however, Pierre Robin sequence patients did require mandibular advancement surgery at a greater frequency than cleft palate patients (p = 0.006). CONCLUSIONS: The present study found that 39.1 percent of conservatively managed Pierre Robin sequence patients required orthognathic surgery at skeletal maturity, of which the vast majority required mandibular advancement for class II malocclusion. These data suggest that mandibular micrognathia in conservatively managed Pierre Robin sequence patients may not resolve over time and may require surgical intervention. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Technical note on introducing a digital workflow for newborns with craniofacial anomalies based on intraoral scans - part II: 3D printed Tübingen palatal plate prototype for newborns with Robin sequence.

BACKGROUND: Orthodontic treatment of newborns and infants with Robin-Sequence using the Tübingen Palatal Plate (TPP) is a complex procedure that could benefit from simplification through digitalization. The design of the velar extension (spur) and the palatal base determines the success of the treatment. Therefore, a prototype must be produced and inserted under endoscopic supervision in order to determine the appropriate shape, length and position of the spur. This technical note demonstrates a fully digital workflow for the design and manufacturing of a functional TPP prototype, based on an intraoral scan. This prototype can be altered and individualized digitally for each patient. After the shape and position of the spur have been optimized, the prototype is duplicated using a silicone mold. Then the definitive TPP is manufactured and inserted. We aim to present a workflow which facilitates the fitting procedure and does not require a conventional impression or a physical model to create the appliance. METHODS: As described in part I of this series, the intraoral scan is performed using the 3Shape TRIOS3 scanner and its corresponding acquisition software. The virtual model is rendered in the 3Shape ortho appliance designer and the base of the palatal plate is designed in the 3Shape dental designer. The palatal plate and the virtual model are then imported into Autodesk Meshmixer and a standardized spur is positioned and merged with the base. The TPP is exported in Standard Tessellation Language (STL) format and manufactured on a W2P Solflex 170 DLP printer using VOCO VPrint Splint material (MDR Class IIa). RESULTS: Based on an intraoral scan, the TPP prototype could be successfully manufactured and proved suitable for the patients' treatment. CONCLUSION: The new digital workflow for the design of the TPP can been successfully implemented into daily clinical routine in our facility. Patients could be alleviated from having to undergo conventional impression procedures and fitting of the TPP could be facilitated by producing multiple functional prototypes for endoscopic evaluation. Through rapid prototyping, the expenditure of the fitting process was reduced, which makes the TPP therapy more efficient and accessible to a wider range of clinicians.

An innovative method for manufacturing the Tuebingen palatal plate for infants with Robin sequence.

BACKGROUND: Robin sequence (RS) is characterized by mandibular micro- and retrognathia, glossoptosis, upper airway obstruction and optionally a cleft palate. With an incidence of 1:8000, it belongs to the so-called rare diseases; 30-50% of patients have RS as part of a syndrome. A comparatively well-studied treatment option is the Tuebingen Palatal Plate (TPP), which has proven effective in both, isolated and syndromic RS, but often requires multiple endoscopies for perfect fit and effectiveness. We report on a new method for fitting the TPP with only one session of nasopharyngeal endoscopy resulting in the plate being finished in one day. METHODS AND RESULTS: First, a prototype is produced, consisting of a traditional acrylic palatal part and a velar extension made of thermoplastic resin, usually measuring 10x40mm. Using polymerization, a scale is added to the posterior part of the extension to help with determining its optimal length during endoscopic evaluation. The extension is pre-bent in the dental laboratory to achieve an approximate shape. During endoscopy, the prototype can be adjusted to the infant's anatomy: first, the angulation is customized by controlled heating, bending and cooling of the thermoplastic spur. Second, the length of the spur is adapted by grinding its tip. Then the prototype is returned to the dental laboratory for completion; the final plate can be delivered to the patient on the same day. It acts by shifting the tongue into a more anterior position, thereby opening the airway and releasing upper airway obstruction, as well as by acting as a functional orthodontic appliance that stimulates mandibular growth through exerting pressure on the base of the tongue. CONCLUSIONS: With the thermoplastic spur presented here, a TPP can be produced within one day, requiring only one endoscopy. This approach may facilitate fabricating the TPP.