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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 -
Science Advances Nov 2022Aberrations in tissue-specific enhancers underlie many developmental defects. Disrupting a noncoding region distal from the human gene causes the Pierre Robin sequence...
Aberrations in tissue-specific enhancers underlie many developmental defects. Disrupting a noncoding region distal from the human gene causes the Pierre Robin sequence (PRS) characterized by the undersized lower jaw. Such a craniofacial-specific defect has been previously linked to enhancers transiently active in cranial neural crest cells (CNCCs). We demonstrate that the PRS region also strongly regulates in CNCC-derived Meckel's cartilage (MC), but not in limb cartilages, even after decommissioning of CNCC enhancers. Such an MC-specific regulatory effect correlates with the MC-specific chromatin contacts between the PRS region and , highlighting the importance of lineage-dependent chromatin topology in instructing enhancer usage. By integrating the enhancer signatures and chromatin topology, we uncovered >10,000 enhancers that function differentially between MC and limb cartilages and demonstrated their association with human diseases. Our findings provide critical insights for understanding the choreography of gene regulation during development and interpreting the genetic basis of craniofacial pathologies.
Topics: Humans; Chromatin; Pierre Robin Syndrome; Enhancer Elements, Genetic; Cartilage
PubMed: 36417512
DOI: 10.1126/sciadv.abo3648 -
Seminars in Fetal & Neonatal Medicine Dec 2021Robin sequence (RS) is a heterogeneous congenital condition characterized by retrognathia, glossoptosis, upper airway obstruction, and very often, posterior U-shape... (Review)
Review
Robin sequence (RS) is a heterogeneous congenital condition characterized by retrognathia, glossoptosis, upper airway obstruction, and very often, posterior U-shape cleft palate. Half the children with RS have an underlying syndrome, either identified (syndromic RS) or not (RS+). Long-term intellectual developmental outcome first depends on the underlying diagnosis and is often poor in syndromic cases. On the contrary, the rare studies that analysed the long-term developmental outcome of children with isolated RS who received effective treatment of their respiratory and feeding difficulties early in life, showed intellectual and academic results close to or within the normal range. Speech outcome in RS is often delayed with phonation disorders. Speech difficulties depend on intellectual level, hearing and velar function after palate repair. It affects most children with RS and deserves active monitoring and care.
Topics: Child; Cleft Palate; Humans; Pierre Robin Syndrome; Respiration Disorders; Retrospective Studies; Treatment Outcome
PubMed: 34561179
DOI: 10.1016/j.siny.2021.101286 -
The Journal of Craniofacial Surgery May 2021This cohort study aimed to assess how age at repair affects outcomes in nonsyndromic patients with and without Robin Sequence using a national database of commercial...
BACKGROUND
This cohort study aimed to assess how age at repair affects outcomes in nonsyndromic patients with and without Robin Sequence using a national database of commercial healthcare claims.
METHODS
Children under 4 years of age undergoing palatoplasty were identified in the IBM MarketScan Commercial Database based on ICD-9-CM and CPT procedure codes. They were divided into Robin and non-Robin cleft palate groups, and further divided by time of initial cleft palate repair: Robin Sequence into 2 groups: age ≤10 months or >10 months; non-Robin cleft palate into 3 groups: age ≤10 months, >10-14 months, or >14 months age. Time to cleft palate revision within each group was assessed using Cox proportional-hazard models.
RESULTS
A total of 261 patients with Robin Sequence and 3046 with non-Robin cleft palate were identified. In patients with Robin, later repair was associated with decreased risk of secondary procedures compared with early repair (Hazard Ratio (HR) 0.19, 95%CI 0.09-0.39, P < 0.001). In patients with non-Robin cleft palate, decreased risk of revision compared to early repair was associated both with repair at >10-14 months (adjusted HR 0.40, 95%CI 0.31-0.52, P < 0.001) and > 14 months (adjusted HR 0.71, 95%CI 0.57-0.88, P = 0.002). Adjusting for timing of repair, patients with non-Robin cleft palate were at significantly increased risk of secondary procedure if diagnosed with failure to thrive or anemia in the 30 days prior to palatoplasty.
CONCLUSIONS
In patients with and without Robin sequence, cleft palate repair at or before 10 months of age was associated with higher risk for secondary procedures.
Topics: Child; Child, Preschool; Cleft Palate; Cohort Studies; Humans; Infant; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 33290333
DOI: 10.1097/SCS.0000000000007311 -
The British Journal of Oral &... Sep 2023Pierre Robin Sequence (PRS) is a congenital craniofacial anomaly distinguished by the presence of micrognathia, glossoptosis, and upper airway obstruction. Cleft palate... (Review)
Review
Pierre Robin Sequence (PRS) is a congenital craniofacial anomaly distinguished by the presence of micrognathia, glossoptosis, and upper airway obstruction. Cleft palate occurs in over 3/4 of patients with PRS. The wide U-shape cleft and airway dysfunction create challenges in clinical management. Currently, disputes exist on the treatment protocol and prognosis of cleft palate management among patients with PRS. This review is focused on the deformity features, intervention timing, technique selection, airway support, and outcome evaluation of cleft palate among patients with PRS, aiming to provide reference to further evolution in the management of PRS-related cleft palate.
Topics: Humans; Cleft Palate; Airway Obstruction; Pierre Robin Syndrome; Prognosis; Outcome Assessment, Health Care
PubMed: 37453893
DOI: 10.1016/j.bjoms.2023.06.003 -
Journal of Cranio-maxillo-facial... Jun 2020To determine weight gain during treatment with the modified palatal plate (MPP) in infants with isolated and syndromic Pierre Robin Sequence (PRS) suffering from...
OBJECTIVE
To determine weight gain during treatment with the modified palatal plate (MPP) in infants with isolated and syndromic Pierre Robin Sequence (PRS) suffering from micrognathia, upper airway obstruction (UAO), and failure to thrive (FTT), the authors conducted a retrospective study of infants treated with the MPP.
METHODS
The main outcome measure was infant weight (g) for up to three months after birth. Demographic and outcome data (associated syndromes, comorbidities, presence of cleft lip or palate, intubation attempts, tracheotomy and cleft repair) were collected.
RESULTS
14 children born January 2010 - December 2019 were included. The majority (86%) of infants showed highly significant weight gain (p < 0.001) within a 3-month period (mean pretreatment weight 3147 g with a SD of 425 g vs mean weight at three months 4435 g with a SD of 635 g). Syndromic PRS was found in 7% of infants. 43% of nonsyndromic PRS patients were found to have other congenital anomalies. Genetic testing showed normal karyotypes in 93% of infants and a microdeletion in 7% of infants. 21% of infants required tracheotomy, but no patients required mandibular distraction (MDO) or tongue-lip adhesion (TLA) to relieve UAO.
CONCLUSION
PRS infants treated with the MPP showed highly significant weight gain within a 3-month period and did not require mandibular surgery for early airway management, but faster gain of weight might have implications for strategies to perform surgery at an earlier point in time.
Topics: Airway Obstruction; Child; Humans; Infant; Osteogenesis, Distraction; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome; Weight Gain
PubMed: 32317138
DOI: 10.1016/j.jcms.2020.03.009 -
International Journal of Pediatric... Apr 2020Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current...
OBJECTIVES
Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes.
METHODS
A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital.
RESULTS
4,052 consecutive charts were reviewed and 234 patients had a diagnosis of PRS confirmed with the triad of micrognathia, glossoptosis, and airway obstruction. Of note, all of these patients had cleft palate. Of the 234 patients with PRS, 65 patients had syndromic diagnoses (28%). One patient had 22q11 DS (0.43%), and 31 patients had Stickler syndrome (13.2%). Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. Multiple other syndromes were identified, but occurred in isolated cases.
CONCLUSION
This study supports literature that PRS is most commonly associated with Stickler Syndrome but rarely associated with 22q11 DS given that only 1 patient had both PRS and 22q11 DS.
Topics: 22q11 Deletion Syndrome; Adolescent; Arthritis; Arthrogryposis; Child; Child, Preschool; Chromosome Disorders; Cleft Palate; Clubfoot; Connective Tissue Diseases; De Lange Syndrome; Duane Retraction Syndrome; Female; Hand Deformities, Congenital; Hearing Loss, Sensorineural; Heart Defects, Congenital; Humans; Hypoventilation; Infant; Infant, Newborn; Intellectual Disability; Male; Mandibulofacial Dysostosis; Mobius Syndrome; Muscle Hypotonia; Pierre Robin Syndrome; Retinal Detachment; Retrospective Studies; Sleep Apnea, Central
PubMed: 31927149
DOI: 10.1016/j.ijporl.2019.109842 -
Archives of Disease in Childhood Oct 2021Obstructive sleep apnoea (OSA) and feeding difficulties are key problems for Pierre Robin sequence (PRS) infants. OSA management varies between treatment centres. Sleep...
INTRODUCTION
Obstructive sleep apnoea (OSA) and feeding difficulties are key problems for Pierre Robin sequence (PRS) infants. OSA management varies between treatment centres. Sleep positioning represents the traditional OSA treatment, although its effectiveness remains insufficiently evaluated.
DESIGN
To complete a polysomnographic (PSG) evaluation of effect of sleep position on OSA in PRS infants less than 3 months of age. We analysed a 10-year national reference centre dataset of 76 PRS infants. PSG was performed as daytime recordings for 67 in the supine, side and prone sleeping position when possible. In most cases, recording included one cycle of non-rapid eye movement (NREM) and rapid eye movement (REM) sleep in each position.
RESULTS
One-third of infants (9/76, 12%) had severe OSA needing treatment intervention prior to PSG. During PSG, OSA with an obstructive apnoea and hypopnoea index (OAHI) >5 per hour was noted in 82% (55/67) of infants. OSA was most severe in the supine and mildest in the side or in the prone positions. The median OAHI in the supine, side and prone positions were 31, 16 and 19 per hour of sleep (p=0.003). For 68% (52/67) of the infants, either no treatment or positional treatment alone was considered sufficient.
CONCLUSIONS
The incidence of OSA was 84% (64/76) including the nine infants with severe OSA diagnosed prior to PSG. For the most infants, the OSA was sleep position dependent. Our study results support the use of PSG in the evaluation of OSA and the use of sleep positioning as a part of OSA treatment.
Topics: Body Height; Body Weight; Child Development; Continuous Positive Airway Pressure; Female; Humans; Infant; Infant, Newborn; Male; Patient Positioning; Pierre Robin Syndrome; Polysomnography; Prone Position; Retrospective Studies; Severity of Illness Index; Sleep Apnea, Obstructive; Supine Position
PubMed: 34244167
DOI: 10.1136/archdischild-2020-320527 -
Brazilian Journal of Otorhinolaryngology 2022Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea...
INTRODUCTION
Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea and nasal obstruction and between obstructive sleep apnea and enuresis. Assessment of the relationship between these variables in non-syndromic Pierre Robin sequence patients is scarce.
OBJECTIVE
The present study aims to evaluate the relationship between symptoms of obstructive sleep apnea, nasal obstruction and enuresis, determining the prevalence of symptoms suggestive of these conditions, in schoolchildren with non-syndromic Pierre Robin sequence, and describe the prevalence of excessive daytime sleepiness habitual snoring and voiding dysfunction symptoms associated with enuresis.
METHODS
This was a prospective analytical cross-sectional study developed at a reference center. Anthropometric measurements and a structured clinical interview were carried out in a sample of 48 patients. The instruments "sleep disorders scale in children" "nasal congestion index questionnaire" (CQ-5), and the "voiding dysfunction symptom score questionnaire" were used. Statistical analysis was performed for p < 0.05.
RESULTS
Positive "sleep disorders scale in children" scores for obstructive sleep apnea and CQ-5 for nasal obstruction were observed in 38.78% and 16.33%, respectively. Enuresis was reported in 16.33% of children, being characterized as primary in 71.43% and polysymptomatic in 55.55%; according to the "voiding dysfunction symptom score questionnaire". There was a significant relationship between nasal obstruction and obstructive sleep apnea symptoms (p < 0.05), but no significance was found between obstructive sleep apnea symptoms and enuresis, and between nasal obstruction and enuresis. The prevalence of excessive daytime sleepiness was 12.24% and of habitual snoring, 48.98%. A family history of enuresis, younger age in years and a positive "voiding dysfunction symptom score questionnaire" score were associated with a higher prevalence of enuresis (p < 0.05).
CONCLUSION
Children with non-syndromic Pierre Robin sequence are at high risk for obstructive sleep apnea symptoms and habitual snoring, with a correlation being observed between nasal obstruction and obstructive sleep apnea symptoms. In addition, the study showed that non-syndromic Pierre Robin sequence, obstructive sleep apnea and nasal obstruction symptoms were not risk factors for enuresis in these patients.
Topics: Child; Humans; Nasal Obstruction; Pierre Robin Syndrome; Cross-Sectional Studies; Prospective Studies; Sleep Wake Disorders; Sleep Apnea, Obstructive
PubMed: 34092522
DOI: 10.1016/j.bjorl.2021.05.002 -
Korean Journal of Orthodontics Sep 2021To investigate the phenotypes and predominant skeletodental pattern in pre-adolescent patients with Pierre-Robin sequence (PRS).
OBJECTIVE
To investigate the phenotypes and predominant skeletodental pattern in pre-adolescent patients with Pierre-Robin sequence (PRS).
METHODS
The samples consisted of 26 Korean pre-adolescent PRS patients (11 boys and 15 girls; mean age at the investigation, 9.20 years) treated at the Department of Orthodontics, Seoul National University Dental Hospital between 1998 and 2019. Dental phenotypes, oral manifestation, cephalometric variables, and associated anomalies were investigated and statistically analyzed.
RESULTS
Congenitally missing teeth (CMT) were found in 34.6% of the patients (n = 9/26, 20 teeth, 2.22 teeth per patient) with 55.5% (n = 5/9) exhibiting bilaterally symmetric missing pattern. The mandibular incisors were the most common CMT (n = 11/20). Predominant skeletodental patterns included Class II relationship (57.7%), posteriorly positioned maxilla (76.9%) and mandible (92.3%), hyper-divergent pattern (92.3%), high gonial angle (65.4%), small mandibular body length to anterior cranial base ratio (65.4%), linguoversion of the maxillary incisors (76.9%), and linguoversion of the mandibular incisors (80.8%). Incomplete cleft palate (CP) of hard palate with complete CP of soft palate (61.5%) was the most frequently observed, followed by complete CP of hard and soft palate (19.2%) and CP of soft palate (19.2%) ( < 0.05). However, CP severity did not show a significant correlation with any cephalometric variables except incisor mandibular plane angle ( < 0.05). Five craniofacial and 15 extra-craniofacial anomalies were observed (53.8% patients); this implicated the need of routine screening.
CONCLUSIONS
The results might provide primary data for individualized diagnosis and treatment planning for pre-adolescent PRS patients despite a single institution-based data.
PubMed: 34556588
DOI: 10.4041/kjod.2021.51.5.337