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Seminars in Fetal & Neonatal Medicine Dec 2021Robin sequence (RS) is diagnosed in infants born with micrognathia, glossoptosis and varying degrees of upper airway obstruction (UAO). Due to the variable levels of... (Review)
Review
Robin sequence (RS) is diagnosed in infants born with micrognathia, glossoptosis and varying degrees of upper airway obstruction (UAO). Due to the variable levels of hypoxia, severe breathing and feeding problems can occur. Treatment is determined by clinical severity, ranging from conservative interventions for mild cases to surgical interventions for severe cases. Mandibular distraction osteogenesis (MDO) is a surgical technique that gradually lengthens the mandible after an osteotomy by using an internal or external distraction device, directly correcting the micrognathia. This review will focus on advantages and disadvantages of mandibular distraction in infants with RS.
Topics: Airway Obstruction; Humans; Infant; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 34663561
DOI: 10.1016/j.siny.2021.101283 -
Paediatric Respiratory Reviews Mar 2023Pierre Robin Sequence (PRS) is defined by a constellation of characteristics including micrognathia, glossoptosis and airway obstruction. PRS can occur in isolation or... (Review)
Review
Pierre Robin Sequence (PRS) is defined by a constellation of characteristics including micrognathia, glossoptosis and airway obstruction. PRS can occur in isolation or can be associated with syndromes and another anomalies. Airway obstruction and feeding difficulties are the major presenting issues, and the severity of the condition ranges from mild, with minimal to no symptoms, to severe, with overt obstruction resulting in apnoeas, severe respiratory distress and cyanosis. The presence of airway obstruction can result in obstructive sleep apnoea and abnormalities in gas exchange, as well as exacerbation of already present feeding difficulties and failure to thrive, secondary to mismatch of caloric intake to energy usage associated with increased effort of breathing. Management of airway obstruction for infants with PRS varies between centres. This paper explores the surgical and non-surgical management options available, their effectiveness and pitfalls in children with PRS. Despite the pros and cons of each management option, it is evident that resource availability and multidisciplinary clinical support are key factors to successful management.
Topics: Infant; Child; Humans; Pierre Robin Syndrome; Osteogenesis, Distraction; Airway Obstruction; Sleep Apnea, Obstructive; Dyspnea; Treatment Outcome
PubMed: 35987882
DOI: 10.1016/j.prrv.2022.07.001 -
The Cleft Palate-craniofacial Journal :... Jun 2023Controversy remains regarding optimal management of Pierre Robin sequence (PRS). The goal of this study was to compare airway and feeding outcomes in infants with PRS...
BACKGROUND
Controversy remains regarding optimal management of Pierre Robin sequence (PRS). The goal of this study was to compare airway and feeding outcomes in infants with PRS who underwent surgical intervention, specifically mandibular distraction osteogenesis (MDO) or tongue-lip adhesion (TLA), or who had conservative management (CM) without surgery.
METHODS
All consecutive patients treated for PRS at a pediatric academic medical center, with at least one year follow-up, were included. Patients who underwent tracheostomy as an index procedure were excluded. Patients were divided into those who underwent MDO, TLA or CM. Feeding status and data from initial and follow-up polysomnograms were collected. Comparisons between groups were made using the Kruskal-Wallis test, followed by Mann-Whitney pairwise comparison with a Bonferroni correction, when appropriate.
RESULTS
67 neonates were included. 19 underwent TLA, 29 underwent MDO and 19 underwent CM. The proportions of syndromic patients were similar between groups. Patients undergoing CM had the lowest baseline AHI (9.1), but there were no significant differences between TLA (20.1) and MDO (25.4). At follow-up, the three groups had similar mean AHI (MDO 1.3, TLA 4.2, CM 4.5). A similar proportion of patients achieved AHI 5 or less (TLA 89.5%, MDO 96.6%, CM 84.2%). At one year, there were no significant differences in weight percentiles or in risk of failure-to-thrive between groups. One patient from the TLA group required a tracheostomy.
CONCLUSION
The three treatment modalities achieved high airway and feeding success rates. All three modalities should have a place in the armamentarium of the craniofacial surgeon.
Topics: Infant, Newborn; Infant; Humans; Child; Treatment Outcome; Pierre Robin Syndrome; Retrospective Studies; Mandible; Osteogenesis, Distraction; Airway Obstruction
PubMed: 35098759
DOI: 10.1177/10556656221076345 -
Plastic and Reconstructive Surgery Mar 2021Pierre Robin sequence (Robin sequence) is defined as the triad of micrognathia, glossoptosis, and airway obstruction. It is frequently associated with palatal clefting....
BACKGROUND
Pierre Robin sequence (Robin sequence) is defined as the triad of micrognathia, glossoptosis, and airway obstruction. It is frequently associated with palatal clefting. In recent years, increased interest in speech outcomes of cleft patients diagnosed with Robin sequence has been shown.
METHODS
Speech outcomes of cleft patients with Robin sequence were assessed at age 5 in comparison with a cleft palate-only cohort. Speech parameters were evaluated according to the Cleft Audit Protocol for Speech-Augmented and analyzed using the National Audit Standards for Speech (United Kingdom). All patients were treated in the same institution during the same period (2005 to 2012). Subjects who needed nasopharyngeal airway support and those whose airway was managed by positioning only were eligible.
RESULTS
Fifty-one cleft patients diagnosed with Robin sequence were included in this study. Outcomes were compared to those of 128 nonsyndromic cleft palate-only patients.Patients with Robin sequence were shown to present with a significantly higher rate of cleft speech characteristics in comparison to the reference cohort (p = 0.001). Furthermore, it was shown that Robin sequence is associated with a significantly higher rate of secondary speech surgery for velopharyngeal dysfunction before the age of 5 (p = 0.016). Robin sequence patients with a nasopharyngeal airway presented with a higher rate of cleft speech characteristics compared to Robin sequence patients managed with positioning only.
CONCLUSION
Cleft patients with Robin sequence are more likely to need further surgery to correct velopharyngeal dysfunction before the age of 5 and are more prone to present with cleft speech characteristics at the age of 5.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, II.
Topics: Case-Control Studies; Child; Child, Preschool; Cleft Palate; Female; Humans; Male; Pierre Robin Syndrome; Plastic Surgery Procedures; Severity of Illness Index; Speech; Speech Disorders; Treatment Outcome; Velopharyngeal Insufficiency
PubMed: 33587554
DOI: 10.1097/PRS.0000000000007641 -
Otolaryngology--head and Neck Surgery :... Feb 2019To assess the dental class occlusion and lateral cephalometry of children with conservatively treated Pierre Robin sequence (PRS) and to identify associations between...
OBJECTIVE
To assess the dental class occlusion and lateral cephalometry of children with conservatively treated Pierre Robin sequence (PRS) and to identify associations between these findings and prepalatoplasty cleft palate measurements.
STUDY DESIGN
Retrospective cohort study.
SUBJECTS AND METHODS
Among 22 patients with PRS, the following data were prospectively collected: demographics and preoperative cleft palate measurements. After patients reached age 6 years, an orthodontist assessed dental occlusion class and performed a lateral cephalometric analysis. PRS cephalometric data were compared with reference population values. Bivariate logistic regression was used to test the association with malocclusion class. Results are presented as odds ratios with 95% profile likelihood confidence intervals. The association between cleft measurements and cephalometric parameters was tested with Spearman's correlation ( r).
RESULTS
All 22 patients had bimaxillary hypoplasia and were prone to hyperdivergency, with a 41% rate of dental class III malocclusion. An increased anterior growth of the still retrusive mandible mostly accounts for the occurrence of the class III malocclusion in PRS (class II SNB = 74.3° vs class III SNB = 77.6°, P = .04). A larger cleft at the time of the cleft repair (mean, 11 months) was associated with increased mandibular retrusion (smaller SNB angle, r = -0.5, P = .02).
CONCLUSIONS
The 41% rate of class III malocclusion among these conservatively treated patients needs to be considered in the choice of the initial airway approach. The future impact of early mandibular advancement will have to be determined.
Topics: Cephalometry; Child; Cleft Palate; Cohort Studies; Confidence Intervals; Female; Hospitals, University; Humans; Logistic Models; Male; Malocclusion, Angle Class III; Odds Ratio; Orthognathic Surgical Procedures; Pierre Robin Syndrome; Predictive Value of Tests; Prognosis; Quebec; Retrospective Studies; Risk Assessment; Treatment Outcome
PubMed: 30325698
DOI: 10.1177/0194599818807918 -
The Journal of Craniofacial Surgery 2020The aim of this study was to evaluate pre-operative nutritional status, associated syndromes and abnormalities, and post-operative outcomes of patients with Pierre Robin...
INTRODUCTION
The aim of this study was to evaluate pre-operative nutritional status, associated syndromes and abnormalities, and post-operative outcomes of patients with Pierre Robin Sequence (PRS) versus those with non-syndromic isolated cleft palate (CIP).
METHODS
Between January 1995 and December 2013, patients with a cleft palate Veau I-II according to the Veau classification with and without PRS who underwent primary repair were retrospectively analyzed. The nutrition status, age at the time of palatoplasty, additional anomalies, gestational complications, and post-operative speech abnormalities and outcomes were evaluated.
RESULTS
A total of 59 patients with PRS (PRS group) and 132 patients without PRS (non-PRS group) were included in the study. Of all patients, 92 were males and 99 were females with a mean age of 14 ± 4.18 (range, 6 to 26) years. The rate of gestational complications, enteral nutrition, complete cleft, additional anomalies, and velopharyngeal insufficiency was significantly higher in the PRS group (P < 0.05). However, the incidence of fistulas and age at the time of palatoplasty did not significantly differ between the groups.
CONCLUSION
Based on our study results, enteral nutrition, respiratory problems, pregnancy complications, velopharyngeal insufficiency, and additional anomalies, but not post-operative palatal fistulas, are more frequently seen in patients with PRS. Although pre-operative care and treatment and rehabilitation in patients with PRS are more complicated than those with the CIP, our experience demonstrates that meticulous repair and follow-up can minimize complications, such as fistulas.
Topics: Adolescent; Adult; Child; Cleft Palate; Female; Fistula; Humans; Incidence; Male; Pierre Robin Syndrome; Postoperative Complications; Postoperative Period; Retrospective Studies; Speech Disorders; Treatment Outcome; Velopharyngeal Insufficiency; Young Adult
PubMed: 31725501
DOI: 10.1097/SCS.0000000000005961 -
Plastic and Reconstructive Surgery Feb 2022Robin sequence is defined as the triad of micrognathia, glossoptosis, and upper airway obstruction. In up to 85 percent, it is associated with cleft palate. Many studies... (Observational Study)
Observational Study
BACKGROUND
Robin sequence is defined as the triad of micrognathia, glossoptosis, and upper airway obstruction. In up to 85 percent, it is associated with cleft palate. Many studies have reported worse speech development in Robin sequence children after cleft palate repair. The authors investigated speech development in isolated Robin sequence with cleft palate versus children with cleft palate only at the age of 5 to 6 years.
METHODS
All Robin sequence children were treated with the Tübingen palatal plate after birth. Data were collected using the German version of the Great Ormond Street Speech Assessment. Audio and video recordings were reviewed and analyzed separately by two blinded senior phoniatricians based on the German version of the Universal Reporting Parameters for Cleft Palate Speech, and scored to enable comparability of speech outcomes.
RESULTS
Forty-four children (Robin sequence, n = 22; cleft palate only, n = 22) were included. Robin sequence children were significantly older at surgery (11.8 months versus 7.1 months; p < 0.001) but younger at study (70.5 months versus 75.2 months; p = 0.035). They also had more severe cleft of the palate (p = 0.006). All children studied showed good to very good speech development without serious impairment. None of the reported parameters on the German version of the Universal Reporting Parameters for Cleft Palate Speech showed significant group differences; the median total score in the Robin sequence group was 23 (interquartile range, 16.5 to 27.5) versus 19 (interquartile range, 17 to 23) in the cleft palate-only group. Statistical analysis revealed no significant effect of group (Z = -1.47; p = 0.14).
CONCLUSIONS
No group differences in speech development were found at age 5 to 6 years. Isolated Robin sequence does not necessarily represent a risk for impaired speech development.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, II.
Topics: Child; Child Development; Child, Preschool; Cleft Palate; Female; Humans; Male; Pierre Robin Syndrome; Prospective Studies; Speech; Speech Disorders
PubMed: 34898524
DOI: 10.1097/PRS.0000000000008730 -
Seminars in Fetal & Neonatal Medicine Aug 2016In infants with craniofacial disorders, upper airway obstruction is one of the primary causes for morbidity and mortality in the neonatal period. Infants with... (Review)
Review
In infants with craniofacial disorders, upper airway obstruction is one of the primary causes for morbidity and mortality in the neonatal period. Infants with craniofacial disorders, including Pierre Robin sequence, are at high risk for obstructive sleep apnea syndrome. Because of the complexity of their care, these neonates are usually followed by a multidisciplinary team to ensure timely evaluation and optimal treatment. In addition to history and physical examination, clinical evaluation may include genetic testing, imaging, endoscopy, and polysomnography. There are various treatment options, both surgical and non-surgical, that may be used depending on clinical assessment, underlying condition, and severity of disease. Recent advances have led to better assessment and treatment of these patients, but many questions remain. This review outlines the available literature pertaining to the evaluation and management of upper airway obstruction in the neonate with craniofacial conditions, with a particular focus on Pierre Robin sequence.
Topics: Achondroplasia; Airway Obstruction; Cleft Lip; Cleft Palate; Craniosynostoses; Down Syndrome; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome
PubMed: 26997148
DOI: 10.1016/j.siny.2016.03.001 -
The Journal of Craniofacial Surgery Jun 2023Pierre Robin Sequence (PRS) is characterized by micrognathia, glossoptosis, cleft palate, and airway distress. The aims of initial treatment are the improvement of...
BACKGROUND
Pierre Robin Sequence (PRS) is characterized by micrognathia, glossoptosis, cleft palate, and airway distress. The aims of initial treatment are the improvement of airway and feeding. There are many therapeutic options, including conservative techniques (prone positioning and nasopharyngeal tube) and invasive procedures (mandibular distraction and tracheostomy). In our center, initially conservative treatment is the rule and many patients have been treated with nasopharyngeal tube.
OBJECTIVE
The aim was to analyze of the clinical evolution of respiratory distress in infants with PRS submitted to nonsurgical treatment.
METHODS
A retrospective and observational descriptive evaluation was carried out with 56 patients with the PRS at Centro de Atendimento Integral ao Fissurado Labiopalatal (CAIF). 21 patients were selected to a transversal phase.
RESULTS
The treatment has started in an average age of 1.5 months (±2.09) and 17 (94.4%) had respiratory distress at birth. Polysomnographic exams showed an average apnea/hypopnea index of 0.93, an average number of central apnea/hour of 0.3, an average number of obstructive apnea of 0.6 and an average oxygen saturation of 92%. There was the predominance of esthetic profile in class II with 16 (88.9%) patients in this group, and orthodontic profile in class II with 15 (83.3%) patients.
CONCLUSION
The conservative treatment has presented remarkable results in the treatment of respiratory distress in bearers of PRS with a decrease of obstructive sleep events considering the growth of patient and the development of mandibular growth as well.
Topics: Infant; Infant, Newborn; Humans; Pierre Robin Syndrome; Retrospective Studies; Conservative Treatment; Airway Obstruction; Sleep Apnea, Obstructive; Dyspnea; Respiratory Distress Syndrome; Treatment Outcome; Osteogenesis, Distraction
PubMed: 37220722
DOI: 10.1097/SCS.0000000000009090 -
Journal of Plastic, Reconstructive &... Nov 2014Robin sequence is a condition that includes the triad of micrognathia, glossoptosis and upper airway obstruction, although many authors now consider that cleft palate is... (Review)
Review
Robin sequence is a condition that includes the triad of micrognathia, glossoptosis and upper airway obstruction, although many authors now consider that cleft palate is also an important part of the sequence. It can be classified as isolated, syndromic or associated with other anomalies without an identifiable syndrome. A possible genetic cause for isolated Robin sequence is yet under preliminary investigation, and the finding of siblings with the same condition, as are the two children we present in this work, is extremely rare, with only nine similar cases previously described. Our article includes the description of the treatment plan and outcome for both children. We review the current concepts and trends of epidemiology, genetics, diagnosis and different treatment options available. We conclude that in cases of failure of more conservative measures in the first weeks, mandibular distraction osteogenesis may be a good and rational option for the management of isolated Robin sequence, as is currently supported in recent literature, providing a reliable way of avoiding tracheostomy.
Topics: Diagnostic Imaging; Humans; Osteogenesis, Distraction; Pierre Robin Syndrome; Practice Guidelines as Topic; Siblings; Tracheostomy
PubMed: 25227330
DOI: 10.1016/j.bjps.2014.08.045