-
Paediatric and Perinatal Epidemiology Sep 2021Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden.
BACKGROUND
Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden.
OBJECTIVE
The aim of this study was to investigate the epidemiology of PRS using a cohort of cases from EUROCAT, the European network of population-based registries of congenital anomalies.
METHODS
We analysed cases of PRS born in the period 1998-2017 collected by 29 population-based congenital anomaly registries in 17 different countries. We calculated prevalence estimates, prenatal detection rate, survival up to 1 week, and proportions of associated anomalies. The effect of maternal age was tested using a Poisson regression model.
RESULTS
Out of 11 669 155 surveyed births, a total of 1294 cases of PRS were identified. The estimate of the overall prevalence was 12.0 per 100 000 births (95% CI 9.9, 14.5). There was a total of 882 (68.2%) isolated cases, and the prevalence was 7.8 per 100 000 births (95% CI 6.7, 9.2). A total of 250 cases (19.3%) were associated with other structural congenital anomalies, 77 cases (6.0%) were associated with chromosomal anomalies and 77 (6.0%) with genetic syndromes. The prenatal detection rate in isolated cases was 12.0% (95% CI 9.8, 14.5) and increased to 16.0% (95% CI 12.7, 19.7) in the sub-period 2008-2017. The prevalence rate ratio of non-chromosomal cases with maternal age ≥35 was higher than in cases with maternal age <25 for total (PRR 1.26, 95% CI 1.05, 1.51) and isolated cases (PRR 1.33, 95% CI 1.00, 1.64). Survival of chromosomal cases (94.2%) and multiple anomaly cases (95.3%) were lower than survival of isolated cases (99.4%).
CONCLUSIONS
This epidemiological study using a large series of cases of PRS provides insights into the epidemiological profile of PRS in Europe. We observed an association with higher maternal age, but further investigations are needed to test potential risk factors for PRS.
Topics: Abnormalities, Multiple; Europe; Female; Humans; Maternal Age; Pierre Robin Syndrome; Pregnancy; Prevalence; Registries
PubMed: 34132407
DOI: 10.1111/ppe.12776 -
Oral and Maxillofacial Surgery Clinics... May 2020Patients with Pierre-Robin sequence recalcitrant to nonsurgical intervention have historically required tracheostomy. Mandibular distraction provides a predictable... (Review)
Review
Patients with Pierre-Robin sequence recalcitrant to nonsurgical intervention have historically required tracheostomy. Mandibular distraction provides a predictable alternative to tracheostomy. Orthodontic perioperative interventions should be considered, including overcorrection, placement of temporary anchorage devices, elastics, and molding the regenerate. Mandibular distraction can be technically difficult and may cause complications. Performed correctly, mandibular distraction provides patients with a better quality of life than tracheostomy.
Topics: Airway Obstruction; Child; Humans; Infant; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Quality of Life; Treatment Outcome
PubMed: 32247440
DOI: 10.1016/j.coms.2020.01.012 -
Oncotarget Apr 2017We investigated a large family with Pierre Robin sequence (PRS).
BACKGROUND
We investigated a large family with Pierre Robin sequence (PRS).
AIM OF THE STUDY
This study aims to determine the genetic cause of PRS.
RESULTS
The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized that PRS in this family was caused by (i) haploinsufficiency for BMPR1B or (ii) a gain of function mechanism mediated by the BMPR1B-GRM4 fusion gene. In an unrelated family, we identified another BMPR1B-splicing mutation that co-segregated with PRS.
CONCLUSION
We detected two BMPR1B mutations in two unrelated PRS families, suggesting that BMPR1B disruption is probably a cause of human PRS.
METHODS
GTG banding, comparative genomic hybridization, whole-genome sequencing, and Sanger sequencing were performed to identify the gene causing PRS.
Topics: Adolescent; Adult; Bone Morphogenetic Protein Receptors, Type I; Child; Child, Preschool; Comparative Genomic Hybridization; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Infant; Karyotype; Male; Middle Aged; Mutation; Pedigree; Phenotype; Pierre Robin Syndrome; Translocation, Genetic; Whole Genome Sequencing; Young Adult
PubMed: 28418932
DOI: 10.18632/oncotarget.16531 -
Fetal Diagnosis and Therapy 2016Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation... (Review)
Review
Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.
Topics: Diagnosis, Differential; Female; Glossoptosis; Humans; Micrognathism; Pierre Robin Syndrome; Polyhydramnios; Pregnancy; Ultrasonography, Prenatal
PubMed: 25967128
DOI: 10.1159/000380948 -
The Cleft Palate-craniofacial Journal :... Jun 2020To identify concepts and constructs important to parents of children with Pierre Robin Sequence (PRS).
OBJECTIVE
To identify concepts and constructs important to parents of children with Pierre Robin Sequence (PRS).
DESIGN
Qualitative study.
SETTING
All children received some care at a tertiary hospital with additional care at outside facilities. Interviews were conducted in nonclinical locations, including remote locations.
PARTICIPANTS
Parents of children <5 years old with a diagnosis of PRS. Prior treatments included observation, positioning, nasal trumpet, mandibular distraction osteogenesis, tracheostomy, and gastrostomy.
INTERVENTION
Semi-structured interviews with individuals (4) and with groups (focus groups, 4) were conducted using open-ended questions and non-leading prompts. Transcripts were analyzed with iterative open and axial coding. Concepts and constructs were identified and refined into codes and central themes. Interviews were conducted until thematic saturation was achieved.
RESULTS
Sixteen parents were interviewed. Their experiences were coded into 5 main themes, which can be summarized as: (1) child's symptoms/well-being, (2) parents' grief/isolation, (3) family stress, (4) relationships with providers, and (5) psychological and technical growth. Difficulty with feeding, weight gain, and breathing problems were core physical issues described by participants with associated intense fear. Participants described frustration from not only lack of care coordination, slow diagnoses, and poor communication but also gratitude for providers who served as advocates. Participants described gradual development of knowledge/competencies.
CONCLUSIONS
Families of children with PRS have experiences that profoundly affect their lives. Child's physical symptoms/well-being and parents' psychosocial well-being provide content for a future PRS-specific quality-of-life instrument. Concepts that emerged also provide a framework to improve parents' experience and enhance their children's quality of care.
Topics: Child; Child, Preschool; Humans; Mandible; Osteogenesis, Distraction; Parents; Pierre Robin Syndrome; Qualitative Research
PubMed: 32174155
DOI: 10.1177/1055665620910331 -
The Cleft Palate-craniofacial Journal :... Jul 2022To describe the initial care practices for children with Pierre Robin sequence (PRS) and analyze the factors predicting the severity of the obstruction breathing...
OBJECTIVES
To describe the initial care practices for children with Pierre Robin sequence (PRS) and analyze the factors predicting the severity of the obstruction breathing disorders.
DESIGN
A retrospective single-center study of 150 children with PRS.
SETTING
Single tertiary care center, Regional Competence Center for the diagnosis and treatment of PRS.
PATIENTS
A total of 150 children with PRS consecutively followed between 1986 and 2017. Group 1 comprises children without specific respiratory management; group 2, children requiring prone positioning to alleviate their respiratory distress symptoms; and group 3, children requiring nasopharyngeal airway tube (NT) or nonconservative surgical treatment.
MAIN OUTCOME MEASURES
Evolution and results of the initial treatment of PRS.
RESULTS
Forty-two percent (n = 63) were attributed to group 1, 39% (n = 50) to group 2, and 19% (n = 29) to group 3. Preterm birth, birth weight, or associated congenital malformations were not significantly different between the groups. However, the age of exclusive oral feeding was significantly different: 1 day (quartiles: 0-3) for group 1; 11 days (quartiles: 1-28) for group 2; 39 days (quartiles: 19-111) for group 3 ( < .0001). Considering the NT, its use relieves the upper airway obstruction, assessed by a respiratory polygraphy, in 14 children.
CONCLUSIONS
Nasopharyngeal airway tube has become our major first-line treatment, avoiding more complex procedures in most of the cases. The achievement of exclusive oral feeding seems to be a good predictor of the severity of respiratory symptoms in PRS.
Topics: Airway Obstruction; Child; Female; Humans; Infant; Infant, Newborn; Nasopharynx; Pierre Robin Syndrome; Premature Birth; Retrospective Studies
PubMed: 34313144
DOI: 10.1177/10556656211031105 -
Journal of Family Health Mar 2017
Review
Topics: Airway Management; Feeding Methods; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome
PubMed: 29727101
DOI: No ID Found -
International Journal of Oral and... Apr 2023The aims of this cohort study were to compare the mandibular morphology between patients with Robin sequence (RS) and controls, and to examine the effects of mandibular...
The aims of this cohort study were to compare the mandibular morphology between patients with Robin sequence (RS) and controls, and to examine the effects of mandibular distraction osteogenesis (MDO) using different vectors. Measurements of the mandibles of 80 patients with RS and 46 controls aged< 90 days were made using computed tomography. The data were compared among isolated RS patients (n = 58), syndromic RS patients (n = 22), and controls. Patients with RS exhibited significantly shorter ramus and body lengths and larger symphyseal angles than controls (all P < 0.001). Patients with isolated RS had shorter body lengths (P < 0.001), while syndromic patients had shorter ramus and body lengths (both P < 0.001) than controls. Seventy RS patients underwent MDO. Pre-MDO (n = 37) and post-MDO (n = 29) mandibular measurements were compared between patients undergoing MDO with a vertical vector and those undergoing MDO with a horizontal vector. Polysomnography data from part of the cohort highlighted the effectiveness of both vectors. MDO with a horizontal vector conferred 11% and 36% increases in ramus and body length, respectively, while these increases were 34% and 27.5%, respectively, with a vertical vector. MDO with a vertical vector was effective in lengthening ramus and body components and should be considered in the presence of ramus hypoplasia.
Topics: Humans; Infant; Cohort Studies; Retrospective Studies; Pierre Robin Syndrome; Osteogenesis, Distraction; Mandible; Polymers; Treatment Outcome; Airway Obstruction
PubMed: 35985910
DOI: 10.1016/j.ijom.2022.07.007 -
The Journal of Craniofacial Surgery Jun 2020Pierre Robin sequence is the constellation of micrognathia, glossoptosis, and tongue-based airway obstruction. When airway obstruction is severe, feeding, growth, and... (Review)
Review
Pierre Robin sequence is the constellation of micrognathia, glossoptosis, and tongue-based airway obstruction. When airway obstruction is severe, feeding, growth, and respiratory demise are at risk. Neonatal mandibular distraction osteogenesis is a technique which improves tongue-based airway obstruction and avoids tracheostomy in patients with severe expressions of Pierre Robin sequence. Its efficacy in relieving airway obstruction is well documented, and it has become the surgical intervention of choice at many craniofacial centers. However, this is an uncommon procedure which can be performed within the first weeks of life, offering little space for a learning curve. The success of neonatal distraction and avoidance of complications is highly dependent on proper surgical technique. This report provides a brief overview of the disease, details the technique of the senior surgeon with captioned videos, describes the protocol used at our institution and reports long-term outcomes with a case description.
Topics: Airway Obstruction; Humans; Infant, Newborn; Larynx; Learning Curve; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome
PubMed: 32209938
DOI: 10.1097/SCS.0000000000006343 -
The Journal of Craniofacial Surgery Jun 2018Heterogeneity in both nomenclature and diagnostic criteria has hindered the interpretation of research into the congenital condition most widely known as (Pierre) Robin...
OBJECTIVE
Heterogeneity in both nomenclature and diagnostic criteria has hindered the interpretation of research into the congenital condition most widely known as (Pierre) Robin syndrome or sequence. In 2009, the discussion regarding its diagnosis and nosology was reopened to converge on a uniform eponym and standard set of diagnostic criteria. The objective of this study was to assess the impact of this debate.
MATERIALS AND METHODS
This is a retrospective review of the nomenclature and diagnostic criteria employed in studies about this condition that were indexed in the MEDLINE literature database (PubMed) and published during 2009 to 2016.
RESULTS
A total of 440 studies were retrieved of which the majority used the eponyms "Pierre Robin sequence" (62.0%) or "Robin sequence" (23.4%). During the study period, there was a significant shift toward the use of "sequence" in preference over "syndrome." Only 71.4% of studies mentioned their criteria for diagnosis, which remained heterogeneous throughout the study period.
CONCLUSION
Since 2009, the debate has not produced a consensus eponym and standard diagnosis. This is unfortunate given the enduring controversies over the optimal management of a condition associated with a high morbidity and mortality. A renewed effort is needed to arrive at a workable consensus to enhance the retrievability of relevant literature and facilitate the interpretation of outcome studies.
Topics: Consensus; Humans; Pierre Robin Syndrome; Retrospective Studies; Terminology as Topic
PubMed: 29485558
DOI: 10.1097/SCS.0000000000004361