Pierre Robin Sequence Research Articles

Role of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.

Upper airway obstruction (UAO) management in children, particularly those with associated anatomical mid-face structural differences, poses a significant challenge. This study describes using a nasopharyngeal airway (NPA) in managing infants with severe upper airway obstruction. Infants discharged home from Queensland Children's Hospital with an NPA insitu for the management of upper airway obstruction were retrospectively evaluated for clinical and demographic parameters, underlying diagnoses and respiratory support, including NPA insertion details and comorbidities. Sixty-seven children (24 male) were included with a median age at NPA insertion of 24 (IQR 7-59) days and a median duration of NPA use of 229.1 (IQR 151.50-297.75) days. Fifty-two (77.6%) had Pierre Robin sequence. Other diagnoses included CHARGE syndrome, Treacher Collins syndrome, Stickler syndrome, Crouzon syndrome, Bohring-Opitz syndrome, isolated cleft palate, Beckwith-Wiedemann syndrome, Chromosome 3 deletion and VACTERL association. Four infants required tracheostomy, and no complications related to NPA use were reported. Those with oximetry and polysomnography data showed improving indices following NPA insertion [pre NPA median (IQR) SpO2: 95.9% (94.73-97.73), AHI: 51.40 (44.50-69.45), OAHI 65.9 (56.45-73.35) and TcCO2 (mmHg) 65.70 (61.95-67.30) vs. post-NPA median (IQR) SpO2: 97.1% (96.19-97.9), AHI: 12.20 (11.25-24.35), OAHI 10.20 (6.12-5.62) and TcCO2 (mmHg) 52.40 (47.90-58.40)]. Our findings highlight the effectiveness and safety of NPA as a noninvasive management option for severe upper airway obstruction in children, particularly in those with anatomical midface structural differences. Further research and larger studies are warranted to confirm these findings and optimise management strategies for these patients.

Airway Management May Not Improve in Adult Patients With Pierre Robin Sequence: A Case Report

Infants with Pierre Robin sequence present with difficult airways due to their triad of micrognathia, glossoptosis, and cleft palate. This creates a difficult airway to intubate and ventilate. Typically, with various interventions and the growth of the mandible with age, the airway gets easier to manage into adulthood. Surgeries, such as coronoidectomy, have been found to ease the difficulty of intubation in pediatric patients, but the results are not always permanent. We present an adult with Pierre Robin sequence who continued to have a difficult airway, suggesting that airway management does not necessarily improve with age.

A Comparative Assessment of Outcomes Following Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion in Pierre Robin Sequence.

The purpose of this study was to assess long-term outcomes of tongue-lip adhesion (TLA) and mandibular distraction osteogenesis (MDO) to resolve upper airway obstruction in patients with Robin sequence (RS). A retrospective cohort study was performed of subjects presenting to a tertiary care pediatric center who underwent either primary MDO or TLA for the treatment of RS between 2004 and 2020. N=59 subjects met inclusion criteria (n=34 MDO, n=25 TLA), and there were no significant differences in preoperative patient characteristics other than age at surgery (MDO 31d vs. TLA 17d, P=0.049). Preoperative apnea-hypopnea index (AHI) was similar between cohorts (33.9 and 46.7, P=0.38). Subjects who underwent MDO demonstrated improved AHI on initial postoperative polysomnogram performed at 2 weeks (3.4 vs. 11.6, P=0.014), however AHI at the second postoperative timepoint (270 vs. 142d, P=0.007) was no different between cohorts (2.8 vs. 2.6, P=0.89). No subject in either group required enteral nutrition or supplemental oxygen at last follow-up. In subjects undergoing MDO, 14.7% demonstrated temporary asymmetric marginal mandibular nerve dysfunction. Forty-seven percent of MDO patients had injury to first primary molars. MDO and TLA both ultimately achieved similar long-term resolution of upper airway obstruction and associated feeding difficulties in patients with Robin sequence. MDO offered a more immediate airway improvement, but the procedure carried a potential risk of neurosensory and dental injury when compared with TLA.

TREATMENT OF PATIENTS WITH PIERRE ROBIN SYNDROME THROUGH OSTEOGENIC DISTRACTION SURGERY

The Pierre Robin sequence is defined as a congenital anomaly characterized by the presence of glossoptosis, micrognathia, and airway obstruction, leading to various complications. Mandibular distraction osteogenesis (MDO) emerges as a surgical treatment option that has been yielding positive results for individuals with Pierre Robin sequence (PRS), directly addressing craniofacial correction, aiming for improved respiratory quality, and enabling adequate mandibular elongation. This study aims to evaluate mandibular distraction osteogenesis and its efficacy in patients with PRS. The literature search encompassed PubMed, Medical Literature Analysis and Retrieval System Online, Latin American and Caribbean Health Sciences Literature, and the Scientific Electronic Library Online, using the DeCS descriptors: "Pierre Robin Syndrome" AND "Distraction Osteogenesis" AND "Micrognathism". Studies have demonstrated the efficacy of MDO as a therapeutic approach to correcting respiratory and feeding problems, with the FEMOD protocol showing promise in improving upper airways and correcting micrognathia. Although studies point to MDO as a good solution for treating mandibular retrognathia in PRS patients, further research is still needed to validate results, compare different treatment approaches, assess long-term surgery effects, and identify potential late complications. This underscores the importance of a multidisciplinary approach to treating these patients.

Dilemma in Managing Airway in a Child with Pierre Robin Sequence and Narrative Review of Treatment Options

Dilemma in Managing Airway in a Child with Pierre Robin Sequence and Narrative Review of Treatment Options

Sensory-Motor-Oral Stimulation Combined with Early Sucking During the Mandibular Distraction Osteogenesis Process in Children with Robin Sequence.

To describe the findings of children with Robin Sequence (RS) who received sensory-motor-oral stimulation combined with early sucking during mandibular distraction osteogenesis (MDO), compared with children who did not receive the intervention. A quasi-experimental study. Setting: A tertiary public hospital. Patients: Children with RS referred to MDO. A historical group from the same population but managed according to the institution's standard protocol (no sucking) served as a control group. Interventions: Sensory-motor-oral stimulation, including sucking, starting 24 h after MDO (intervention group). Main Outcome Measure: Our hypothesis is that sensory-motor-oral stimulation, including sucking during the DOM process, do not negatively affect surgical outcomes. Twenty-nine children were included. Eight (72.7%) of the 11 patients in the intervention group and 13 (72.2%) of the 18 controls had MDO complications, with no significant difference between the groups (p = 1.000). The most common surgical outcome was antibiotic therapy for surgical site infection (76.2%). Six months after MDO, 22 (75.9%) children attained full oral feeding or associated with alternative feeding methods. The intervention group did not have higher complication rates, from a surgical point of view, than control group. The protocol adopted by some centers that contraindicates sucking during MDO should be revised to consider the benefits of such stimulation. Keywords: Pierre Robin Syndrome, deglutition, therapeutics, child development.

Long-term persistence in obstructive sleep apnea following tongue-lip adhesion in infants with Pierre Robin sequence and a cleft palate

ABSTRACT Obstructive sleep apnea (OSA) and airway compromise are common in infants with Pierre Robin syndrome (PRS) due to tongue-based airway obstruction. Tongue-lip adhesion (TLA) is an effective procedure that can alleviate the symptoms of OSA by preventing posterior prolapse of the tongue. Although OSA consistently improved following TLA, it did not fully resolve. Ongoing management of OSA was required in all patients. These results identify the need for OSA to be reevaluated and managed for several years in PRS patients who have had a TLA.

Jaw Thrust: A Simple Predictor of Success in Mandibular Distraction Osteogenesis.

The hypoplastic mandible in the congenital condition Pierre Robin sequence (PRS) displaces the base of the tongue posteriorly, which results in upper airway obstruction (UAO) that can potentially be corrected with mandibular distraction osteogenesis (MDO). Jaw thrust (JT) is routinely performed during evaluation of the airway; similar to MDO, it projects the mandible and tongue anteriorly to open the airway. The authors demonstrate that JT can be used as a criterion to predict successful MDO outcomes in infants with PRS. The study was a single-center, retrospective chart review of infants diagnosed with PRS between 2016 and 2023. Data regarding their demographics, comorbid diagnoses, JT success, airway anomalies, laryngeal grade of view, apnea-hypopnea index, and perioperative course were statistically analyzed. Of the 16 patients included in the study, 11 had successful relief of their airway obstruction with JT and proceeded with MDO. The unsuccessful JT group had significantly greater proportions of females, birth prematurity, gastrostomies, tracheostomies, and longer hospital stays. In the successful JT group, both the mean laryngeal grade of view ( P =0.029) and mean apnea-hypopnea index ( P =0.025) improved significantly post-MDO. Post-MDO tracheostomy was also avoided in all but 1 patient who was not previously tracheostomized. There is no widely accepted algorithm to guide craniofacial surgeons on the optimal intervention for relieving UAO in infants with PRS. In our institutional experience, patients whose preoperative JT relieved UAO also successfully relieved UAO with MDO. In patients with PRS, JT may be a useful criterion for selecting appropriate candidates for MDO.

Global Research Trends and Focuses on Pierre Robin Sequence From 1992 to 2023: A Bibliometric Analysis of the Past 3 Decades.

There is currently a lack of scientific bibliometric analyses in the field of Pierre Robin sequence (PRS). Pierre Robin sequence is known for its clinical triad of micrognathia, glossoptosis, airway obstruction, and possible secondary cleft palate. These defects can lead to upper airway obstruction, sleep apnea, feeding difficulties, affect an individual's growth and development, education level, and in severe cases can be life-threatening. Through analysis of literature retrieved from the Web of Science Core Collection (WoSCC) database using Results Analysis and Citation Report and Citespace software, 933 original articles and reviews were included after manual screening. The overall trend for the number of annual publications and citations was increasing. On the basis of the analysis, airway evaluation and treatment, mandibular distraction osteogenesis (MDO), as well as descriptions of PRS characteristics have been the focus of research in this field. In addition, with advances in new technologies such as gene sequencing and expanding understanding of diseases among researchers, research on genetics and etiology related to PRS has become a growing trend.

Positive Outcomes in Isolated and Syndromic Pierre Robin Sequence Infants Treated with Mandibular Distraction Osteogenesis: A Single Surgeon’s Experience

Background: Pierre Robin Sequence (PRS) presents in isolation [iPRS] or in conjunction with a genetic syndrome [sPRS] that can subsequently lead to respiratory dysfunction and eventual failure to thrive. Mandibular distraction osteogenesis (MDO) has gained popularity as a way to surgically address the airway obstruction in PRS. sPRS patients routinely have a more challenging clinical course, and there is a paucity of data comparing the effectiveness of MDO as a treatment for sPRS versus iPRS. That said, this study analyzed MDO in both sPRS and iPRS patients within a relatively large single institution cohort. Methods: A retrospective review was conducted on all PRS patients who underwent MDO by a single surgeon between 2015 and 2022. The patients were stratified into iPRS or sPRS based on genetic evaluation (N = 50). Primary measures were demographic and situational data; outcome measures included tracheostomy and gastrostomy tube (g-tube) avoidance, Apnea-Hypoxia Index (AHI), and laryngeal view predistraction and at time of distractor removal. Results: Prior to distraction, iPRS (N = 32) and sPRS (N = 18) patients showed no significant differences in age (105.1 ± 199.7 days; range 2-1051 days), AHI (17.3 ± 17.1; range 3.6-90), or laryngeal view (65% grade III or IV) ( P > .05). Overall, post-MDO, there was a statistically significant decrease in mean AHI 17.3 to 4.5 ( P < .001). sPRS patients in particular had a significant decrease in average AHI following MDO from 15.2 to 4.5 ( P = .028). Post-MDO both groups had similar improvement of laryngeal view, and avoidance of g-tube ( P < .05). Conclusions: MDO was found to be an effective technique to improve airway obstruction in both sPRS and iPRS. Despite the fact that sPRS patients typically have a more challenging clinical course, an equivalent clinical improvement in airway outcomes was seen between sPRS and iPRS patients post-MDO.

Evaluation of hard palate and cleft morphology in neonates with Pierre Robin Sequence and Cleft Palate Only.

This study aimed to establish a fully digital measurement protocol for standardizing the description of hard palate and cleft morphology in neonates with an isolated cleft palate (CPO) and Pierre Robin sequence (PRS). A total of 20 digitized plaster models of neonates with CPO and 20 digitized plaster models of neonates with PRS were retrospectively investigated. For the control group, the hard palate was segmented from 21 pre-existing 1.5 T MRI datasets of neonates and exported as an STL file. The digital models were marked with predefined reference points by three raters. Distance, angular, and area measurements were performed using Blender and MeshLab. Neonates with CPO (20.20 ± 2.33 mm) and PRS (21.41 ± 1.81 mm) had a significantly shorter hard palate than the control group (23.44 ± 2.24 mm) (CPO vs. control: P < .001; PRS vs. control: P = .014). Notably, neonates with PRS (33.05 ± 1.95 mm) demonstrated a significantly wider intertuberosity distance than those with CPO (30.52 ± 2.28 mm) (P = .012). Furthermore, there were also significant differences measured between the cleft and control groups (25.22 ± 2.50 mm) (P < .001). The data from this study demonstrate the feasibility of using MRI datasets to generate digital models of the hard palate. The presence of a cleft palate leads to pronounced adaptations of the total palatal surface area, dorsal width, and length of the hard palate. Mandibular retrognathia and altered tongue position in PRS, as opposed to CPO, might further impact palatal morphology and intertuberosity distance.

Growth Patterns of the Maxillomandibular Complex in Preadolescent Patients With Pierre-Robin Sequence Using Cluster Analysis and Longitudinal Follow-Up Cephalometric Data.

To investigate the growth patterns of the maxillomandibular complex in preadolescent patients with Pierre-Robin sequence (PRS). The samples consisted of 20 preadolescent PRS patients who had cleft palate and did not undergo growth-modification therapy or surgical intervention [6 boys and 14 girls; mean age of lateral cephalograms taken, 8.8 y (T1) and 13.7y (T2)]. According to k-means cluster analysis, four clusters were defined over 3 major groups at T1: (1) Both very retrusive maxilla and mandible group: Cluster-4 [n=4, very large gonial angle, very low facial height ratio (FHR)] and Cluster-1 (n=5, small gonial angle, normal FHR); (2) Retrusive maxilla and very retrusive mandible group (Cluster-3, n=7, normal gonial angle, very low FHR); and (3) Both normal maxilla and mandible group (Cluster-2, n=4, very large gonial angle, low FHR). Seven angular and ratio variables [sella-nasion-A point (SNA), sella-nasion-B point (SNB), A point-nasion-B point (ANB), saddle angle, gonial angle, mandibular-body-length/anterior-cranial-base-length (MBL/ACBL), and FHR] at T1 and T2 and growth change from T1 to T2 were investigated. At T1, SNA, SNB, saddle angle, gonial angle (all P<0.05), and FHR (P<0.01) showed significant difference among 4 clusters. At T2, SNA, SNB and gonial angle (all P<0.05) still showed significant difference among 4 clusters. During T1 to T2, there was no significant change in variables at each cluster except an increase in MBL/ACBL in Cluster-1 and FHR in Cluster-3 (all P<0.05). Preadolescent PRS patients exhibited diverse skeletal phenotypes at T1, which did not change significantly from their original skeletal patterns by growth during T1 to T2.

Pierre Robin Sequence: An Updated Evidence-Based Treatment Proposal.

The Pierre Robin sequence (PRS) is characterized by the presence of micrognathia, glossoptosis, and respiratory obstruction during the neonatal period, its prompt recognition allows to mitigate the associated morbidity and mortality. A diagnosis and treatment algorithm was previously proposed based on data from the literature to guide therapeutic efforts; therefore, it was proposed to carry out a new search for relevant evidence to update or complement it. A literature review of the subject was conducted in PubMed, Embase, and Cochrane databases, corresponding to the period between November 2016 and September 2021. Using the GRADE methodology, 38 articles from different clinical studies that discussed diagnostic tests or therapeutic approaches, directly or indirectly compared, were selected and evaluated. After evaluating and analyzing the selected articles, the new information was incorporated into an updated algorithm according to the most recent evidence found for the diagnosis and comprehensive management of patients with PRS. To date, there is no consensus in the literature on the treatment of patients with PRS nor are there multicenter studies comparing different management modalities. The indications to proceed with surgical strategies do not present changes with respect to the previous article. Nutritional monitoring is the main objective, and the study of oral feeding is essential in all scenarios.

Computerized Surgical Planning for Mandibular Distraction Osteogenesis.

Mandibular distraction osteogenesis is a technically challenging procedure due to complex mandibular anatomy, especially in the treatment of Pierre-Robin Sequence due to variable bone thickness in the infant mandible and the presence of tooth buds. Computerized surgical planning (CSP) simplifies the procedure by preoperatively visualizing critical structures, producing cutting guides, and planning distractor placement. This paper describes the process of using CSP to plan mandibular distraction osteogenesis, including discussion of recent advances in the use of custom distractors.

Mandibular Distraction in Patients With Pierre Robin Sequence: A Multisurgeon Experience.

Mandibular distraction osteogenesis (MDO) is rapidly becoming a standard of care for management of patients with severe Pierre Robin sequence. The tongue is brought forward to alleviate airway obstruction. This study will look at an institutional, multisurgeon experience with MDO over 10 years. A retrospective chart review was conducted. All patients who underwent MDO at the authors' institution from 2012 to 2022 were included. Three craniofacial surgeons performed all interventions. Demographics, preoperative and postoperative respiratory and feeding status, and distraction data were collected for 27 patients meeting inclusion criteria. Primary outcomes were avoidance of a gastrostomy tube, avoidance of a tracheostomy, discharge from hospital on room air, and complications. A significance value of 0.05 was utilized. The average age at MDO was 135 days, mean activation phase was 13.6 days, mean distraction length was 14.9 mm, and mean consolidation phase was 64.2 days. A longer activation phase was associated with discharge with a gastrostomy tube and a shorter activation phase was associated with discharge on full oral feeds. The ability to discharge on room air was associated with a shorter latency phase, shorter activation phase, and decreased distance of distraction. The goal of MDO is to achieve full oral feeds with no respiratory support. Several different latency periods were used in this study, and a short latency period was demonstrated to be safe.

Pre-Operative Characteristics Helping to Avoid Gastrostomy Tube After Mandibular Distraction in Neonates With Pierre-Robin Sequence: A Institutional Case-Series and Review of the Literature.

to investigate the ability of mandibular distraction osteogenesis (MDO) to avoid gastrostomy tube (G-tube). PubMed, EBSCOhost, Cochrane, and Embase. We retrospectively reviewed the number of MDO cases performed at our institution for patients with Robin Sequence (RS) over the past 10 years. In our institutional review, patients were excluded if they had a G-tube already placed at the time of surgery. We also performed a systematic review of the literature. Articles were excluded if they did not detail feeding outcomes after MDO, or if MDO was performed on patients that did not have RS. In our systematic review, 12 articles were included that comprised a total of 209 neonates with RS that underwent MDO. A total of 174 (83.3%) patients avoided a G-tube once MDO was performed. A total of 14 patients met the inclusion criteria at our institution. Of the 14 RS patients, 9 (64%) avoided having a G-tube placed and all (14/14) avoided tracheostomy. The average birth weight of patients avoiding a G-tube was 3.11 kg compared to 2.25 kg (P = .045) in the group requiring a G-tube. In the group avoiding a G-tube, the average weight at time of operation was 3.46 kg compared to 2.83 kg (P = .037) in the group requiring a G-tube. MDO may be considered as a surgical option to prevent G-tube placement for neonates with non-syndromic RS who have difficulty with PO feeding but whose airway obstruction is not severe enough to require respiratory support. Based on our institutional experience, a minimum weight of 3.00 kg correlated with higher success rates of PO intake and avoiding a G-tube.

0791 Polysomnographic Outcomes of Obstructive Sleep Apnea in Infants with Pierre-Robin Sequence

0791 Polysomnographic Outcomes of Obstructive Sleep Apnea in Infants with Pierre-Robin Sequence

Multidisciplinary treatment of Pierre Robin sequence: a review

Multidisciplinary treatment of Pierre Robin sequence: a review

Prevalence of psychiatric and cognitive disorders in patients with Pierre-Robin sequence - a statistical analysis

IntroductionThe Pierre-Robin sequence (PRS), characterized by micrognathia, glossoptosis, and cleft palate, has long been a subject of clinical interest. Recent research suggests a potential association between PRS and cognitive or psychiatric disorders. This study explores this intriguing connection, shedding light on the complex interplay between craniofacial anomalies and mental health.ObjectivesThis study aims to establish a comprehensive understanding of the relationship between Pierre-Robin Sequence and psychiatric disorders. Specifically, our objectives include: assessing prevalence, evaluating impact and informing clinical practice. This research aims to improve the holistic care and mental well-being of individuals with craniofacial malformations, contributing to a more comprehensive approach in the field of psychiatry.MethodsThis cross-sectional study was conducted at a prominent referral hospital named Hospital de Clínicas de Porto Alegre, an international reference in Pierre-Robin Sequence, during the month of August 2023.Participant Selection: Patients with PRS. Inclusion criteria encompassed individuals of all ages and both genders.Data Collection: Trained medical personnel conducted structured interviews with participants to gather demographic information, medical history, and details of their craniofacial conditions.Medical Records Review: Medical records were reviewed to corroborate craniofacial diagnoses and identify any comorbid conditions.Statistical Analysis: Data were analyzed using appropriate statistical techniques to assess the association between PRS and psychiatric disorders.Ethical Considerations: The study adhered to all ethical guidelines, with informed consent obtained from participants or their legal guardians. Ethical approval was obtained from the hospital’s Institutional Review Board.Data Handling: Confidentiality and data security were ensured throughout the study, with all data anonymized to protect participant privacy.ResultsIn our study, we assessed 28 different patients with Pierre-Robin Sequence, comprising 13 females and 15 males. The youngest patient was 2 months old, while the oldest was 22 years old. The mean age of the patients was 4.75 years, with a median of 3 years and a standard deviation of 5.36 years.Among the patients, 6 exhibited psychiatric disorders, split between 4 males and 2 females. Their average age was 10 years, with a median of 9 years and a standard deviation of 4.2. The youngest patient with evidence of a psychiatric disorder was 5 years old.ConclusionsThis study underscores a concerning reality within the Pierre-Robin population, pointing to a high prevalence of psychiatric disorders. These findings highlight the urgent need for integrated care, emphasizing the importance of early psychiatric assessment and tailored interventions to enhance the overall well-being of individuals facing the challenges of PRS.Disclosure of InterestNone Declared

Mandibular distraction osteogenesis in children with Pierre Robin sequence: long-term analysis of teeth and jaw growth

Treatment of children with Pierre Robin sequence (PRS) having a hypoplastic mandible and upper airway distress after birth may consist of external distraction devices. Shape anomalies of the permanent molars and positional changes due to surgery have been documented. The aim of this study is to compare the long-term effects (>5 years) on the growth pattern of PRS-patients treated with an external mandibular distraction device with no-surgery cases and to investigate the dental development or damage. A retrospective cohort study was performed. PRS-patients with and without surgery were included. A digital cephalometric analysis was made to evaluate the growth pattern of the mandible between groups as well as with normal values. Nine of 19 patients underwent an external mandibular distraction. All children were extubated after 4-5 days with no signs of respiratory distress. Screw and device loosening presented in one patient. The articular and sellar angles were significantly larger and smaller, respectively, in the Surgery group. Mandibular distraction surgery might result in a ‘growth boost’ compared to the No-surgery group. No significant difference in dental development was found. Mandibular distraction osteogenesis is an effective way of relieving severe upper airway obstruction.