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Plastic Surgery (Oakville, Ont.) Feb 2019Children with Pierre Robin sequence (PRS) have a complex clinical presentation and requires many health-care providers. Thus, multiple clinical pathways have been...
INTRODUCTION
Children with Pierre Robin sequence (PRS) have a complex clinical presentation and requires many health-care providers. Thus, multiple clinical pathways have been proposed on how to manage this population, with some opting for conservative measures while others opting for a surgical approach. However, no consensus has been reached on the most appropriate protocol.
OBJECTIVE
To present the treatment protocol for PRS at the Hospital for Sick Children. This will be evaluated through a qualitative examination of the approach from the patient's perspective, and a micro-costing analysis of the financial aspects of providing care.
METHODS
A retrospective cohort study was conducted to evaluate infants who were admitted with PRS and failure to thrive from January 2004 to December 2015. This was followed by a micro-costing analysis to evaluate the cost of the management protocol. Finally, a qualitative evaluation of the parent's perspective was done.
RESULTS
Eighty-nine patients were admitted with failure to thrive during the study period. Fourteen patients underwent surgical management. Fourteen patients required readmission for airway or feeding issues secondary to PRS. The average cost per patient was Can$105 996. With regard to the qualitative evaluation, key themes that were generated included stress upon hospital admission, variable methods of understanding PRS, good level of communication with the team, excellent hospital process, and challenging transition home.
CONCLUSION
These results will aid in the continual evolution of a protocol and provide important information on PRS to both families and centers that manage these children.
PubMed: 30854357
DOI: 10.1177/2292550318767922 -
Clinical Oral Investigations Sep 2017Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The...
OBJECTIVES
Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP).
MATERIALS AND METHODS
The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code.
RESULTS
Partial tooth agenesis was observed in 47.8% of ns-RS and 29.8% of ns-CP patients with a greater prevalence in the mandibula than in the maxilla, particularly in ns-RS. The teeth most frequently absent in both groups were the mandibular second premolars and maxillary lateral incisors. Tooth agenesis was bilateral in two-thirds of affected ns-RS patients and one-half of ns-CP patients. In ns-RS, bilateral agenesis of the mandibular second premolars was more frequently observed in female than that in male patients. Completely symmetrical patterns of hypodontia were found in around 45% of ns-RS patients with tooth agenesis compared to 35% in ns-CP. No association was found between the extent of the palatal cleft and the severity of hypodontia.
CONCLUSION
Tooth agenesis is more prevalent in ns-RS than that in ns-CP, demonstrates a much greater predilection for the mandible in ns-RS, and bears no relation to the extent of the palatal cleft.
CLINICAL RELEVANCE
When compared to ns-CP, additional developmental disturbances are likely involved in the etiology of tooth agenesis in ns-RS. Future research could help identify the underlying genetic traits and aid in classifying patients in those with and without expected tooth agenesis in order to facilitate orthodontic management strategies.
Topics: Anodontia; Child; Cleft Palate; Female; Humans; Male; Netherlands; Phenotype; Pierre Robin Syndrome; Prevalence; Radiography, Panoramic
PubMed: 27933446
DOI: 10.1007/s00784-016-2020-z -
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 -
Neuron Mar 2017In this issue of Neuron, Ben-Yaacov et al. (2017) dissect the interaction between AMPA receptors and auxiliary (TARP) subunits, revealing essential roles for the... (Review)
Review
In this issue of Neuron, Ben-Yaacov et al. (2017) dissect the interaction between AMPA receptors and auxiliary (TARP) subunits, revealing essential roles for the receptor transmembrane and cytoplasmic domains, as well as for the TARP extracellular EX2 loop.
Topics: Animals; Calcium Channels; Clubfoot; Heart Defects, Congenital; Humans; Membrane Proteins; Neurons; Pierre Robin Syndrome; Protein Subunits; Receptors, AMPA
PubMed: 28279361
DOI: 10.1016/j.neuron.2017.02.040 -
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 -
Hematology, Transfusion and Cell Therapy 2018This study investigated the association of Robin Sequence with ABO and RhD blood group phenotypes.
BACKGROUND
This study investigated the association of Robin Sequence with ABO and RhD blood group phenotypes.
METHODS
A retrospective cross-sectional study was performed of a cohort of Robin Sequence patients of the Hospital de Reabilitação de Anomalias Craniofaciais - Universidade de São Paulo (USP), Brazil. The study group was composed of 339 individuals of both genders with Robin Sequence referred for specific treatment. A control group was composed of 1780 individuals without syndromes. The groups were compared using the Pearson' chi-square test ( ) with statistical significance being defined for an alpha error of 5% (-value < 0.05).
RESULTS
A comparison of gender found a significant difference for the AB phenotype between groups (-value = 0.007). Comparing blood type by gender there was no significant difference within the same group (-value = 0.117 and 0.388 respectively, for Robin Sequence and the control group). When comparing the AB blood type between groups, there was no difference for females (-value = 0.577), but there was a significant difference for males (-value = 0.0029).
CONCLUSIONS
This study showed that the population with Robin Sequence had different patterns related to gender concerning the phenotypic distribution of ABO and RhD blood group phenotypes. Robin Sequence is more common among females. The AB phenotype was significantly higher in males with Robin Sequence than in males of the Control Group. The prevalence of the RhD-negative phenotype is higher in individuals with Robin Sequence. This result suggests a possible association of ABO and RhD phenotypes with Robin Sequence that should be better investigated by molecular studies, as it deserves greater attention.
PubMed: 30370413
DOI: 10.1016/j.htct.2018.03.009 -
European Journal of Pediatrics May 2018Although Robin sequence (RS) is a well-known phenomenon, it is still associated with considerable morbidity and even mortality. The purposes of this study were to gain...
UNLABELLED
Although Robin sequence (RS) is a well-known phenomenon, it is still associated with considerable morbidity and even mortality. The purposes of this study were to gain greater insight into the mortality rate and identify risk factors associated with mortality in RS. We retrospectively reviewed all RS infants followed at the Wilhelmina Children's Hospital from 1995 to 2016. Outcome measurements were death and causes of death. The authors identified 103 consecutive RS infants with a median follow-up of 8.6 years (range 0.1-21.9 years). Ten of the 103 infants (10%) died at a median age of 0.8 years (range 0.1-5.9 years). Nine of these ten infants (90%) were diagnosed with an associated syndrome. Of these, seven infants died of respiratory insufficiency due to various causes (two related to upper airway obstruction). The other two syndromic RS infants died of arrhythmia due to hypernatremia and of West syndrome with status epilepticus. One isolated RS infant died of brain ischemia after MDO surgery. Cardiac anomalies were observed in 41% and neurological anomalies in 36%. The presence of a neurological anomaly was associated with a mortality rate of 40% versus 7% in infants with no neurological anomaly (p = 0.016), with an odds ratio of 8.3 (95% CI 1.4-49.0) for neurological anomaly versus no neurological anomaly. Mortality was 15% in infants with syndromic RS versus 2% in infants with isolated RS (p = 0.044). Mortality was not significantly associated with the presence of a cardiac anomaly, surgical treatment for severe respiratory distress in the neonatal period, or prematurity.
CONCLUSION
RS represents a heterogeneous patient population and is associated with a high level of underlying syndromes. The present study reports a mortality rate of 10% significantly associated with syndromic RS and the presence of neurological anomalies. A multidisciplinary approach in all infants born with RS, including genetic testing and examination of neurological anomalies in a standardized way, is crucial to identify infants with underlying syndromes potentially associated with increased mortality. What is Known: • Reported mortality rates in Robin sequence vary from 2% to 26%. • Clinicians mainly focus on the morbidity of Robin sequence that includes respiratory complications due to upper airway obstruction in the period after birth. • Robin sequence represents a heterogeneous patient population and is associated with a high level of underlying syndromes. What is New: • The present study reports a mortality rate of 10% significantly associated with syndromic Robin sequence and the presence of neurological anomalies. • A multidisciplinary approach in all infants born with Robin sequence, including genetic evaluation and standardized workup for neurological anomalies, is crucial to identify infants with underlying syndromes potentially associated with increased mortality.
Topics: Cause of Death; Child, Preschool; Cohort Studies; Female; Humans; Infant; Infant, Newborn; Male; Pierre Robin Syndrome; Registries; Retrospective Studies; Risk Factors
PubMed: 29492661
DOI: 10.1007/s00431-018-3111-4 -
Molecular Syndromology Nov 2016Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS...
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of , the regulation of which has been associated with PRS phenotypes. We identified 141 children with nonsyndromic PRS at the Royal Children's Hospital, Melbourne from 1985 to 2012 using 2 databases. Clinical and demographic data were extracted by file review and children categorized as 'isolated PRS' or 'PRS-Plus'. A subset of children with PRS-Plus was selected for detailed phenotyping and DNA sequencing of the upstream CNEs. We found 83 children with isolated PRS and 58 with PRS-Plus. The most common PRS-Plus malformations involved the musculoskeletal and ocular systems. The most common coexisting craniofacial malformation was choanal stenosis/atresia. We identified 10 children with a family history of PRS or cleft palate. We found a single nucleotide substitution in a putative -binding site in one patient, but it was inherited from his phenotypically unaffected mother. PRS-Plus represents a broad phenotypic spectrum with uncertain pathogenesis. Dysmorphology assessment by a clinical geneticist is recommended. CNE sequence variants are rare in our cohort and are unlikely to play a significant role in the pathogenesis of PRS-Plus.
PubMed: 27920635
DOI: 10.1159/000449115 -
The Cleft Palate-craniofacial Journal :... May 2020Establish the reliability of the jaw index to objectify the relationship between the maxilla and mandible in healthy newborns.
OBJECTIVE
Establish the reliability of the jaw index to objectify the relationship between the maxilla and mandible in healthy newborns.
DESIGN
Cohort study.
SETTING
Tertiary setting.
PATIENTS
A total of 52 healthy newborns were included to detect an inter and intraclass correlation coefficient (ICC) of 0.8 with a 95% confidence interval (95% CI) of width 0.3. Inclusion criteria were children born full term without respiratory or feeding problems, and without congenital malformations or facial deformities due to birth trauma. Uncooperative patients were excluded.
INTERVENTIONS
The jaw index, a measuring tool for objectifying micrognathia in children suspected of having Robin sequence, was used. An ICC of greater than 0.8 was considered clinically relevant.
MAIN OUTCOME MEASURE(S)
Primary outcomes are the reliability of the jaw index expressed as interclass correlation coefficient and ICC. Secondary outcomes are the mean jaw index and mean length of the mandible, maxilla, and the alveolar overjet.
RESULTS
An interclass correlation coefficient of 0.74 (95% CI: 0.49-0.86) and an ICC of 0.81 (95% CI: 0.66-0.89) were found. The mandible had an average length of 162.6 mm (standard deviation [SD] 11.1), the maxilla 168.7 mm (SD 9.4), the alveolar overjet 2.0 mm (SD 0.60), and the mean jaw index was 2.1 (SD 0.64).
CONCLUSION
The jaw index is a consistent instrument between different observers as well as for one observer measuring consecutively in the same child, to objectify the size of the lower jaw compared to that of the upper jaw in healthy newborns.
Topics: Child; Cohort Studies; Humans; Infant, Newborn; Mandible; Micrognathism; Observer Variation; Pierre Robin Syndrome; Reproducibility of Results
PubMed: 31749374
DOI: 10.1177/1055665619885726 -
Frontiers in Neurology 2021In order to evaluate brain changes in young children with Pierre Robin sequence (PRs) using machine learning based on apparent diffusion coefficient (ADC) features, we...
In order to evaluate brain changes in young children with Pierre Robin sequence (PRs) using machine learning based on apparent diffusion coefficient (ADC) features, we retrospectively enrolled a total of 60 cases (42 in the training dataset and 18 in the testing dataset) which included 30 PRs and 30 controls from the Children's Hospital Affiliated to the Nanjing Medical University from January 2017-December 2019. There were 21 and nine PRs cases in each dataset, with the remainder belonging to the control group in the same age range. A total of 105 ADC features were extracted from magnetic resonance imaging (MRI) data. Features were pruned using least absolute shrinkage and selection operator (LASSO) regression and seven ADC features were developed as the optimal signatures for training machine learning models. Support vector machine (SVM) achieved an area under the receiver operating characteristic curve (AUC) of 0.99 for the training set and 0.85 for the testing set. The AUC of the multivariable logistic regression (MLR) and the AdaBoost for the training and validation dataset were 0.98/0.84 and 0.94/0.69, respectively. Based on the ADC features, the two groups of cases (i.e., the PRs group and the control group) could be well-distinguished by the machine learning models, indicating that there is a significant difference in brain development between children with PRs and normal controls.
PubMed: 33746868
DOI: 10.3389/fneur.2021.580440