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Molecular Syndromology Apr 2021Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory... (Review)
Review
Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: "Pierre Robin syndrome/sequence AND gene mutation." The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.
PubMed: 34012376
DOI: 10.1159/000513217 -
The Journal of Laryngology and Otology May 2017To search for studies on tongue-lip adhesion and tongue repositioning used as isolated treatments for obstructive sleep apnoea in children with Pierre Robin sequence. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To search for studies on tongue-lip adhesion and tongue repositioning used as isolated treatments for obstructive sleep apnoea in children with Pierre Robin sequence.
METHODS
A systematic literature search of PubMed/Medline and three additional databases, from inception through to 8 July 2016, was performed by two authors.
RESULTS
Seven studies with 90 patients (59 tongue-lip adhesion and 31 tongue repositioning patients) met the inclusion criteria. Tongue-lip adhesion reduced the mean (± standard deviation) apnoea/hypopnoea index from 30.8 ± 22.3 to 15.4 ± 18.9 events per hour (50 per cent reduction). The apnoea/hypopnoea index mean difference for tongue-lip adhesion was -15.28 events per hour (95 per cent confidence interval = -30.70 to 0.15; p = 0.05). Tongue-lip adhesion improved the lowest oxygen saturation from 75.8 ± 6.8 to 84.4 ± 7.3 per cent. Tongue repositioning reduced the apnoea/hypopnoea index from 46.5 to 17.4 events per hour (62.6 per cent reduction). Tongue repositioning improved the mean oxygen saturation from 90.8 ± 1.2 to 95.0 ± 0.5 per cent.
CONCLUSION
Tongue-lip adhesion and tongue repositioning can improve apnoea/hypopnoea index and oxygenation parameters in children with Pierre Robin sequence and obstructive sleep apnoea.
Topics: Child; Humans; Lip; Oxygen Consumption; Pierre Robin Syndrome; Severity of Illness Index; Sleep Apnea, Obstructive; Tissue Adhesions; Tongue; Treatment Outcome
PubMed: 28193305
DOI: 10.1017/S0022215117000056 -
The Journal of Pediatrics Apr 2012To determine the underlying genetic diagnosis of Pierre Robin sequence (PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants with... (Review)
Review
OBJECTIVES
To determine the underlying genetic diagnosis of Pierre Robin sequence (PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants with PRS, and contrast the interventions provided to children with isolated and syndromic PRS.
STUDY DESIGN
The study involved retrospective chart reviews at 2 children's hospitals and a systematic literature review.
RESULTS
Approximately 40% of the patients had isolated PRS, and 60% of the patients had additional syndromic features. The patients with PRS with syndromic features required more aggressive medical management. Stickler syndrome was the most common syndromic diagnosis in PRS. The difficulty of making an accurate genetic diagnosis during the neonatal period was demonstrated.
CONCLUSION
All infants with PRS should be evaluated to check for the presence of syndromic features, and a longitudinal follow-up is warranted to monitor for the development of any syndromic features.
Topics: Female; Hospitals, Pediatric; Humans; Infant, Newborn; Male; Pierre Robin Syndrome; Retrospective Studies
PubMed: 22048048
DOI: 10.1016/j.jpeds.2011.09.021 -
The Cleft Palate-craniofacial Journal :... Feb 2019The concept of mandibular catch-up growth is often quoted in the literature regarding Pierre Robin sequence (PRS). We endeavored to perform a systematic review of...
OBJECTIVE
The concept of mandibular catch-up growth is often quoted in the literature regarding Pierre Robin sequence (PRS). We endeavored to perform a systematic review of whether the literature supports this concept.
DESIGN
Systematic review.
INTERVENTIONS
A PubMed-based systematic review of the English literature was performed of articles objectively measuring mandibular growth or position after nonoperative management of PRS.
MAIN OUTCOME MEASURES
Rate and end point of mandibular length, ramus length, gonial angle, and maxillomandibular discrepancy.
RESULTS
The initial search delivered 607 English-language abstracts. Of these, 16 met inclusion criteria. Eight articles evaluating 143 patients followed longitudinal patient data and therefore allowed comparison of growth rates to controls. Ten articles evaluating 228 patients presented cross-sectional data and therefore could only evaluate a single time point. Two of the 8 longitudinal studies reported faster than normal growth of mandibular length in a significant portion of their cohort. Five of 8 reported equal growth rates. One of 16 studies reported that mandibular length of patients with PRS normalized compared to controls. Two of 16 studies reported no difference in maxillomandibular discrepancy between PRS and controls, whereas 10 reported a posteriorly displaced mandible relative to the maxilla in PRS. Significant differences in control groups, patients, and age existed between studies.
CONCLUSIONS
While the concept of catch-up growth in PRS is often quoted, a minority of objective studies suggest increased mandibular growth rates in isolated PRS. Even fewer studies suggest that the maxillomandibular discrepancy in PRS completely resolves.
Topics: Cephalometry; Cross-Sectional Studies; Humans; Mandible; Pierre Robin Syndrome; Retrospective Studies
PubMed: 29727222
DOI: 10.1177/1055665618774025 -
European Respiratory Review : An... Dec 2023Robin sequence (RS), a congenital disorder of jaw maldevelopment and glossoptosis, poses a substantial healthcare burden and has long-term health implications if airway... (Meta-Analysis)
Meta-Analysis Review
Robin sequence (RS), a congenital disorder of jaw maldevelopment and glossoptosis, poses a substantial healthcare burden and has long-term health implications if airway obstruction is suboptimally treated. This study describes the global birth prevalence of RS and investigates whether prevalence estimates differ by geographical location, ethnicity or study data source (registry non-registry data). The protocol was prospectively registered with PROSPERO.Databases were searched using keywords and subject terms for "Robin sequence", "epidemiology", "incidence" and "birth prevalence". Meta-analysis was performed fitting random effects models with arcsine transformation.From 34 eligible studies (n=2722 RS cases), pooled birth prevalence was 9.5 per 100 000 live births (95% CI 7.1-12.1) with statistical heterogeneity. One third of studies provided a case definition for RS and numerous definitions were used. A total of 22 countries were represented, predominantly from European populations (53% of studies). There was a trend towards higher birth prevalence in European populations and lower prevalence from registry-based studies. Only two studies reported ethnicity.This study indicates that RS occurs globally. To investigate geographical differences in prevalence, additional studies from non-European populations and reporting of ethnicity are needed. Heterogeneity of estimates may be due to variable diagnostic criteria and ascertainment methods. Recently published consensus diagnostic criteria may reduce heterogeneity among future studies.
Topics: Infant; Humans; Pierre Robin Syndrome; Prevalence; Incidence; Registries; Consensus
PubMed: 38056889
DOI: 10.1183/16000617.0133-2023 -
Journal of Cranio-maxillo-facial... Feb 2017Systematically search literature for flexible fiberoptic laryngoscopy (FFL) use in Robin Sequence (RS) patients, in diverse clinical scenarios. (Review)
Review
OBJECTIVE
Systematically search literature for flexible fiberoptic laryngoscopy (FFL) use in Robin Sequence (RS) patients, in diverse clinical scenarios.
DATA SOURCES
Pubmed, LILACS and SCIELO.
REVIEW METHODS
Systematic review using a sensitive search strategy focused on RS patients and FFL.
RESULTS
There were 48 full text articles included in this systematic review. No summary meta-analytic measurement could be calculated due to heterogeneity of interventions and outcomes. FFL approaches were grouped in five topics, as follows: Endoscopic classification: no evidence on superiority of awake over light sedation and correlation of grading scales with symptom severity. Airway abnormalities: high incidence of concomitant lesions besides glossoptosis. Swallowing evaluation: no validation against fluoroscopy (gold standard) yet. Intubation aid for mechanical ventilation: ultra-thin bronchoscopes improve success rates of intubation. Treatment outcome monitoring: no consensus on ideal parameters to be checked.
CONCLUSION
Some applications have their roles already well established in the management of RS patients, like the evaluation of glossoptosis and associated lesions and as an intubation assistance tool, while others need to be the subject of further research, like the exact method of evaluation, its association with clinical manifestations, its role in swallowing investigation and as a postoperative success predictor.
Topics: Fiber Optic Technology; Humans; Laryngoscopes; Laryngoscopy; Pierre Robin Syndrome
PubMed: 28011184
DOI: 10.1016/j.jcms.2016.11.008 -
Clinical Oral Investigations Jul 2017In addition to breathing problems, patients with Robin sequence (RS) often encounter feeding difficulties (FD). Data regarding the occurrence of FD and possible... (Review)
Review
OBJECTIVES
In addition to breathing problems, patients with Robin sequence (RS) often encounter feeding difficulties (FD). Data regarding the occurrence of FD and possible influencing factors are scarce. The study aim was to elucidate these factors to improve treatment strategies.
MATERIAL AND METHODS
A retrospective comparative cohort study was conducted, consisting of 69 infants diagnosed with both RS and a cleft palate and 64 isolated cleft palate only (iCPO) infants. Data regarding FD, growth, and airway intervention were collected during the first 2 years of life. A systematic review of the literature was conducted to identify reported FD in RS patients.
RESULTS
RS patients had more FD (91 %) than iCPO patients (72 %; p = 0.004). Also, nasogastric (NG)-tube feeding was necessary more frequently and for a longer period (both p < 0.001). Growth was lower in RS than iCPO infants (p = 0.008) and was not affected by the kind of airway management (conservative/surgical; p = 0.178), cleft palate grade (p = 0.308), or associated disorders (p = 0.785). By contrast, surgical intervention subtype did significantly affect growth. Mean reported FD for RS in the literature is 80 % (range = 47-100 %), and 55 % (range = 11-100 %) of infants need NG-tube feeding.
CONCLUSIONS
FD is present in a large proportion of infants with RS, which indicates the need for early recognition and proper treatment to ensure optimal growth. Growth during the first 2 years of life is significantly lower in RS patients than iCPO patients, which indicates the need for careful attention and long-term follow-up.
CLINICAL RELEVANCE
This study indicates the need for early recognition and proper treatment of FD in RS to ensure optimal growth. In addition, growth needs careful attention and long-term follow-up.
Topics: Child Development; Cleft Lip; Cleft Palate; Feeding and Eating Disorders; Female; Humans; Infant; Male; Pierre Robin Syndrome; Retrospective Studies
PubMed: 27868158
DOI: 10.1007/s00784-016-1996-8 -
Journal of Plastic, Reconstructive &... Aug 2015Cleft palate repair for Pierre Robin Sequence (PRS) patients has always been a challenge for surgeons and anesthetists. The aim of this systematic review is to... (Review)
Review
Cleft palate repair for Pierre Robin Sequence (PRS) patients has always been a challenge for surgeons and anesthetists. The aim of this systematic review is to investigate the outcome of cleft palate repair for PRS patients compared with cleft palate-only patients. All papers published before October 2014 were searched in the databases PubMed and MEDLINE. Search terms included "Pierre Robin Sequence," "cleft palate repair," and "speech result." Additional studies were identified by hand searching the reference lists of the papers retrieved from electronic search. Two independent reviewers assessed the eligibility of studies for inclusion, extracted the data, and assessed the quality of the studies. Six studies met the inclusion criteria. All but one study had multiple deficiencies in study designs. Four studies assessed the fistula rate of both groups, and all studies assessed some aspect of the speech results. Conflicting results and a lack of high-quality and long-term outcomes of reviewed studies provided no conclusive scientific evidence about whether the outcome of cleft palate repair for PRS patients was better or worse than cleft palate-only patients. Further well-designed, well-controlled, and long-term studies are needed.
Topics: Cleft Palate; Fistula; Humans; Patient Outcome Assessment; Phonetics; Pierre Robin Syndrome; Speech Intelligibility; Velopharyngeal Insufficiency
PubMed: 26187812
DOI: 10.1016/j.bjps.2015.04.015 -
Sleep & Breathing = Schlaf & Atmung Mar 2020There are no standardized management algorithms for neonates with Pierre Robin sequence. Currently available literature is variable in terms of outcomes assessed across... (Comparative Study)
Comparative Study
There are no standardized management algorithms for neonates with Pierre Robin sequence. Currently available literature is variable in terms of outcomes assessed across studies. In this paper, we have aimed to summarize the currently available literature on longitudinal sleep and respiratory outcomes in Pierre Robin sequence neonates with a focus on identifying gaps in literature and areas for future research development.
Topics: Child, Preschool; Follow-Up Studies; Humans; Infant; Infant, Newborn; Longitudinal Studies; Mandibular Osteotomy; Pierre Robin Syndrome; Polysomnography; Respiratory Distress Syndrome, Newborn; Sleep Apnea, Obstructive; Sleep Disorders, Intrinsic; Tracheostomy; Treatment Outcome
PubMed: 31240543
DOI: 10.1007/s11325-019-01876-6 -
Child's Nervous System : ChNS :... Jul 2020The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal... (Review)
Review
INTRODUCTION
The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS.
METHODS
We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion.
RESULTS
Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical de-tethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS.
CONCLUSION
Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management.
Topics: Adolescent; Airway Obstruction; Chromosome Deletion; Chromosomes, Human, Pair 10; Female; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome; Spinal Diseases
PubMed: 32399800
DOI: 10.1007/s00381-020-04642-2