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Archives of Disease in Childhood Sep 2023Birth prevalence of Robin sequence (RS) is commonly reported as 1 case per 8000-14 000 live births. These estimates are based on single-source case ascertainment and may...
BACKGROUND
Birth prevalence of Robin sequence (RS) is commonly reported as 1 case per 8000-14 000 live births. These estimates are based on single-source case ascertainment and may miss infants who did not require hospital admission or those without overt upper airway obstruction at birth.
OBJECTIVES
To identify the true birth prevalence of RS with cleft palate in the UK and Ireland from a population-based birth cohort with high case ascertainment.
METHODS
Active surveillance of RS with cleft palate was carried out in the UK/Ireland using dual sources of case ascertainment: British Paediatric Surveillance Unit (BPSU) reporting card and nationally commissioned cleft services. Clinical data were collected from notifying clinicians at two time points.
RESULTS
173 live-born infants met the surveillance case definition, giving a birth prevalence of 1 case per 5250 live births (19.1 per 100 000 (95% CI 16.2 to 21.9)), and 1:2690 in Scotland. 47% had non-isolated RS, with Stickler syndrome the most common genetic diagnosis (12% RS cases). Birth prevalence derived from the combined data sources was significantly higher than from BPSU surveillance alone.
CONCLUSIONS
Birth prevalence of RS in the UK/Ireland derived from active surveillance is higher than reported by epidemiological studies from several other countries, and from UK-based anomaly registries, but consistent with published retrospective data from Scotland. Dual case ascertainment sources enabled identification of cases with mild or late-onset airway obstruction that were managed without hospital admission. Studies of aetiology and equivalent well-designed epidemiological studies from other populations are needed to investigate the identified geographical variability in birth prevalence.
Topics: Infant; Infant, Newborn; Child; Humans; Pierre Robin Syndrome; Cleft Palate; Retrospective Studies; Ireland; Watchful Waiting; Scotland; Airway Obstruction
PubMed: 37369383
DOI: 10.1136/archdischild-2023-325556 -
Frontiers in Pediatrics 2023We aimed to measure the related indicators of the neonatal mandible in East China. This provides basic data for the study of the mandible position and morphology of...
OBJECTIVE
We aimed to measure the related indicators of the neonatal mandible in East China. This provides basic data for the study of the mandible position and morphology of normal newborns and can also provide data support for the diagnosis, evaluation, and treatment of the Pierre Robin sequence.
METHODS
First, we collected the CT data of normal neonates at the Nanjing Children's Hospital Affiliated with Nanjing Medical University between January 2013 and January 2019. The data included the maxilla and mandible, and neonates had no craniomaxillofacial-related malformation. We exported the data in DICOM format. In the second step, we imported the data into MIMICS 21.0 to reconstruct the data into a 3D model, and then we used the model to measure the different measurement items. Specific measurement items were as follows: ① Measurement of the angle α: We imported the CT data of the neonate into the software and reconstructed a 3D model. We observed the 3D model to find the left and right gonions (LGo and RGo) and the Menton (Me) and used the angle measurement tool of the software to appoint Me as the apex, and we connected the points LGo, Me, and RGo as angle α. ② Measurement of the distance between the left and right gonions: The distance measurement tool of the software was used to measure the distance between the bilateral gonions as a. ③ Measurement of the distance from the Me to the line between LGo and RGo: The LGo and RGo were connected as a line on the 3D model, then the distance between Me and the line was measured as b. ④ Measurement of the distance between the upper and lower jaw: The median sagittal view was found and the distance c between the foremost point of the upper jaw and the foremost point of the lower jaw was measured. We imported the measurement results into the SPSS software for statistical analysis.
RESULTS
Specific measurement results: ① Angle α: 86.34 ± 8.58°. ② Distance a: 63.63 ± 6.83 mm. ③ Distance b: 31.99 ± 3.70 mm. ④ Distance c: 2.28 ± 1.04 mm. Among all the above indicators, there was no statistical difference between gender.
CONCLUSIONS
In this study, 132 neonates were initially screened, of which 117 met the inclusion criteria and were finally included. There were 69 male and 48 female neonates. The indicators α, a, b, and c showed no statistical differences between male and female neonates; therefore, we combined the results to obtain the normal reference value: angle α: 86.34 ± 8.58°; distance a: 63.63 ± 6.83 mm; distance b: 31.99 ± 3.70 mm; distance c: 2.28 ± 1.04 mm.
PubMed: 37645036
DOI: 10.3389/fped.2023.1172909 -
Frontiers in Physiology 2023The main clinical manifestations of patients with Pierre Robin sequence (PRS) include micrognathia, the glossoptosis and dyspnoea. The difficulty of tracheal intubation...
The main clinical manifestations of patients with Pierre Robin sequence (PRS) include micrognathia, the glossoptosis and dyspnoea. The difficulty of tracheal intubation (TI) in such patients is increased. The purpose of the study was to evaluate the reliability and efficacy of the PRS simulator. A PRS simulator was developed by using 3-dimensional (3D) printing technology under computer-aided design. A total of 12 anaesthesiologists each trained 5 times for TI on the PRS Training Simulator-1 and recorded the simulation time. After the training, they were randomly divided into three groups with a total of 12 nontrained anaesthesiologists, and the simulation was completed on PRS Simulator-2, 3 and 4. The simulation time was recorded, and the performance was evaluated by three chief anaesthesiologists. Then, all 24 anaesthesiologists completed the questionnaire. A PRS simulator developed by 3D printing was used to simulate the important aspects of TI. The average number of years worked was 6.3 ± 3.1 years, and 66.7% were female. The time for the 12 anaesthesiologists to complete the training gradually decreased ( < 0.01). Compared with the trained anaesthesiologists, the simulation time of TI in the nontrained anaesthesiologists was much longer (all < 0.01). In addition, the simulation performance of the trained anaesthesiologists was relatively better (all < 0.01). The reliability and efficacy of the PRS simulator is herein preliminarily validated, and it has potential to become a teaching and training tool for anaesthesiologists.
PubMed: 38374871
DOI: 10.3389/fphys.2023.1292523 -
PloS One 2023Airway management can be challenging in neonates and infants. The Pierre Robin sequence (PRS) is a condition characterized by micrognathia, glossoptosis and airway...
An approach to difficult airway in infants: Comparison of GlideScope® Spectrum LoPro, GlideScope® Spectrum Miller and conventional Macintosh and Miller blades in a simulated Pierre Robin sequence performed by 90 anesthesiologists.
BACKGROUND
Airway management can be challenging in neonates and infants. The Pierre Robin sequence (PRS) is a condition characterized by micrognathia, glossoptosis and airway obstruction. The airway management of these patients poses great challenges for anesthesiologists and pediatricians alike. To date, there has been no direct comparison of the hyperangulated GlideScope® Spectrum LoPro (GLP), the straight GlideScope® Spectrum Miller (GSM), a conventional Macintosh (MC) and a conventional Miller blade (ML) in patients with PRS.
METHODS
For this purpose, 90 anesthesiologists (43 with limited experience, 47 with extensive experience) performed orotracheal intubation on an Air-Sim® Pierre Robin X manikin using GLP, GSM, MC and ML in randomized order. 'Time-to-vocal-cords', 'time-to-intubate', 'time-to-ventilate', the severity of oral-soft-tissue-trauma and the subjective evaluation of each device were recorded.
RESULTS
A significantly faster and better view of the vocal cords and lower oral-soft-tissue-trauma was achieved using the GLP (p<0.001). Though, there were no significant differences in the 'time-to-intubate' or 'time-to-ventilate'. The highest intubation success rate was found with GSM and the lowest with GLP (GSM 100%, ML 97.8%, MC 96.7%, GLP 93.3%). When using the videolaryngoscopes, there were no undetected esophageal intubations but in six cases prolonged attempts of intubation (>120s) with the GLP. In the sub-group with extensive experience, we found significantly shorter intubation times for the GSM and ML. The GLP was the tool of choice for most participants, while the conventional MC received the lowest rating.
CONCLUSIONS
Videolaryngoscopy leads to increased safety for the prevention of undetected esophageal intubation in the airway management in a PRS manikin. Hyperangulated blades may ensure a good and fast view of the vocal cords and low oral-soft-tissue-trauma but pose a challenge during the placement of the tube. Specific skills and handling seem to be necessary to ensure a safe tube placement with this sort of blades.
Topics: Infant, Newborn; Humans; Infant; Pierre Robin Syndrome; Anesthesiologists; Laryngoscopes; Intubation, Intratracheal; Airway Management; Manikins; Soft Tissue Injuries; Laryngoscopy
PubMed: 37535590
DOI: 10.1371/journal.pone.0288816 -
The Kobe Journal of Medical Sciences Nov 2023The obstruction of the upper airway (UAO) in infants diagnosed with Robin Sequence (RS) is caused by micrognathia, and in severe cases, it can result in obstructive...
BACKGROUND
The obstruction of the upper airway (UAO) in infants diagnosed with Robin Sequence (RS) is caused by micrognathia, and in severe cases, it can result in obstructive sleep apnea (OSA). Mandibular distraction osteogenesis (MDO) is a secure and efficient remedy for significant UAO. However, there is insufficient data on the related cephalometric changes. Therefore, this study meticulously analyzes the mandibular cephalometric changes in infants with RS who have undergone MDO using internal devices. The aim is to gain a more comprehensive understanding of the short- and long-term impacts of distraction on the mandible.
METHODS
The study examined 73 consecutive cases of mandibular distraction osteogenesis (MDO) performed by a single surgeon. Preoperative and postoperative lateral cephalograms, as well as CT scans of the mandible, were utilized to assess population averages for both time points. A two-sample T-Test with equal variance was used for this analysis.
RESULTS
After the MDO procedure, 19 out of 21 cephalometric parameters exhibited significant morphological changes. On average, there were notable improvements of 20.3 mm (60.7%) in length, 9.8 mm (49.7%) in height, 12.6 mm (36.1%) in width, and 211% in airway parameters. However, most parameters showed only mild regression at the time of device removal and 6 to 12 months post-MDO. Nonetheless, the cephalometric parameters remained significantly improved compared to the preoperative measurements.
CONCLUSIONS
The use of cephalometric measurement is a potent approach that provides a clear and measurable understanding of how MDO influences both immediate and long-term growth of the mandible. This quantitative assessment of the effects of mandibular distraction allows for the refinement of surgical techniques and the optimization of outcomes. Therefore, incorporating cephalometric measurements in the evaluation of patients undergoing MDO can lead to better surgical planning and more favorable results.
Topics: Humans; Infant; Pierre Robin Syndrome; Osteogenesis, Distraction; Retrospective Studies; Treatment Outcome; Mandible
PubMed: 38018222
DOI: 10.24546/0100485259 -
Children (Basel, Switzerland) Sep 2023The Tübingen Palatal Plate (TPP) is a minimally invasive yet highly effective functional orthodontic treatment for upper airway obstruction in infants with Robin... (Review)
Review
The Tübingen Palatal Plate (TPP) is a minimally invasive yet highly effective functional orthodontic treatment for upper airway obstruction in infants with Robin Sequence (RS). It consists of a palatal plate to cover the cleft and a velar extension that shifts the root of the tongue forward. We review our practical experience with this approach. First, upon admission, our local orthodontists perform an (3-D) intraoral scan of the maxilla. Based on the scan data, the TPP is manufactured in a semi-digital workflow. The length and angulation of its extension is checked via awake laryngoscopy and the effectiveness confirmed by a sleep study. Plates are kept in place by adhesive cream. When inserting the TPP, the tip of the tongue must be visible. Next, metal fixation bows should be secured to the forehead using tape and elastic bands. Plates are removed daily for cleaning, and the oral mucosa is then checked for pressure marks. Feeding training (initially only via finger feeding) may even start before plate insertion. Breathing often normalizes immediately once the plate is inserted. For isolated RS, we have never had to perform a tracheostomy. This has largely been possible through our highly dedicated and competent team, particularly the nursing staff, and the early involvement of parents.
PubMed: 37892291
DOI: 10.3390/children10101628 -
The Kobe Journal of Medical Sciences Nov 2023The purpose of this study was to provide the experience of a single center with mandibular distraction osteogenesis (MDO) in Pierre Robin Sequence (PRS) patients. A...
The purpose of this study was to provide the experience of a single center with mandibular distraction osteogenesis (MDO) in Pierre Robin Sequence (PRS) patients. A longitudinal research analysis was conducted to identify PRS patients who underwent MDO at Vietnam National Children's Hospital between 2019 and 2021. The following criteria were used to determine inclusion: 1) those pediatric patients with PRS who were not well handled with conservative therapy, 2) those who received MDO with internal mandibular distractors, and 3) no previous treatment elsewhere. Demographic data, postoperative complications, and surgical results were all evaluated. The inclusion criteria were met by 73 patients. There were no difficulties associated with our distraction strategy. The majority of individuals with tracheostomies were successfully decannulated, and the remainder were able to avoid tracheostomies. Using MDO in PRS is an effective technique to avoid future airway issues. The success rate was lower and the complication rate higher for patients who had a tracheotomy before distraction and for those who underwent distraction at an age older than 2 months. The presence of laryngomalacia, gastric reflux disease, cardiac abnormalities, and GI anomalies did not increase the likelihood of MDO failure in PRS patients.
Topics: Humans; Infant; Child; Osteogenesis, Distraction; Pierre Robin Syndrome; Vietnam; Retrospective Studies; Treatment Outcome; Mandible
PubMed: 38018223
DOI: 10.24546/0100485260 -
The Cleft Palate-craniofacial Journal :... Feb 2024The only findings consistent among infants with Robin sequence (RS) are the presence of micrognathia, glossoptosis, and upper airway obstruction (UAO). Feeding and...
OBJECTIVE
The only findings consistent among infants with Robin sequence (RS) are the presence of micrognathia, glossoptosis, and upper airway obstruction (UAO). Feeding and growth dysfunction are typical. The etiopathogenesis of these findings, however, is highly variable, ranging from sporadic to syndromic causes, with widely disparate levels of severity. This heterogeneity has created inconsistency within RS literature and debate about appropriate workup and treatment. Despite several attempts at stratification, no system has been broadly adopted.
DESIGN
We recently presented a novel classification that is summarized by the acronym . Each of 5 elements is scored: gnathia, utrition, irway, alate, yndrome/comorbidities, and element scores are summarized into a "stage".
RESULTS
Testing of this system in a sample of 100 infants from our center found it to be clinically relevant and to predict important management decisions and outcomes.
CONCLUSIONS
We herein present an interactive website (www.prscalculator.com) and printable reference card for simple application of MicroNAPS, and we advocate for this classification system to be adopted for clinical care and research.
PubMed: 38303142
DOI: 10.1177/10556656241229892 -
The Cleft Palate-craniofacial Journal :... Feb 20241. To assess the skeletal class occlusion and lateral cephalometry in children with isolated cleft palates (non-Robin sequence) and 2. to identify associations between...
OBJECTIVES
1. To assess the skeletal class occlusion and lateral cephalometry in children with isolated cleft palates (non-Robin sequence) and 2. to identify associations between these findings and pre-palatoplasty cleft palate measurements.
STUDY DESIGN
Retrospective cohort study.
SETTING
North American Institutional Tertiary Paediatric Center.
PATIENTS
Our cleft database was reviewed, and patients were included if they had an isolated cleft palate without a Robin Sequence diagnosis, had a Furlow palatoplasty and had available per operative cleft palate measurements and available lateral cephalogram between 6 and 8 years old. Thirty-two patients matched to inclusion criteria.
INTERVENTION
Furlow's Palatoplasty.
MAIN OUTCOME AND MEASURES
Cleft size at palatoplasty, cephalometric measurements and skeletal occlusal classes were analysed. ANOVA was used to test the association between cephalometric measurements and occlusal classes. Results are presented as means with a 95% confidence interval. The association between cleft measurements and cephalometric parameters was tested with Spearman Correlation (r).
RESULTS
The skeletal occlusal outcome at 7 years old for this series of patients was: Class I: 19%; Class II: 59% and Class III: 22%. No single cleft measurement at palatoplasty was predictive of the skeletal occlusal outcome. A larger hard palate cleft was associated with a shorter antero-posterior maxilla.
CONCLUSIONS
The skeletal occlusal class outcomes were similar to those found in a previous study in the literature. The occlusal prognosis appears to be better than in patients with Robin Sequence or with an associated cleft lip. No preoperative measurement was found to be associated with the occlusal outcome.
PubMed: 38389267
DOI: 10.1177/10556656241236078 -
Indian Journal of Otolaryngology and... Dec 2023Certain congenital craniofacial malformations can cause upper airway obstruction. Due to neurological involvement, these craniofacial deformities with upper airway...
UNLABELLED
Certain congenital craniofacial malformations can cause upper airway obstruction. Due to neurological involvement, these craniofacial deformities with upper airway blockage frequently require tracheostomy. Children who need weeks or months of continuous ventilator assistance require tracheostomies, which improve pulmonary toilet and decrease laryngotracheal lesions such subglottic stenosis and tracheomalacia. In this case report we will be discussing about two patients who underwent Pediatric tracheostomy for Pierre Robin sequence and supraglottic stenosis in our institute. This paper emphasizes on some of the rare causes of pediatric upper airway obstruction - Pierre Robin sequence and supraglottic stenosis. Also the importance of tracheostomy procedure, which is the gold standard for management of upper airway obstruction in patients who are not responding to conservative management is emphasized.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s12070-023-03892-1.
PubMed: 37974804
DOI: 10.1007/s12070-023-03892-1