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The Annals of Otology, Rhinology, and... Jul 2024to investigate the ability of mandibular distraction osteogenesis (MDO) to avoid gastrostomy tube (G-tube). (Review)
Review
Pre-Operative Characteristics Helping to Avoid Gastrostomy Tube After Mandibular Distraction in Neonates With Pierre-Robin Sequence: A Institutional Case-Series and Review of the Literature.
OBJECTIVE
to investigate the ability of mandibular distraction osteogenesis (MDO) to avoid gastrostomy tube (G-tube).
DATA SOURCES
PubMed, EBSCOhost, Cochrane, and Embase.
REVIEW METHODS
We retrospectively reviewed the number of MDO cases performed at our institution for patients with Robin Sequence (RS) over the past 10 years. In our institutional review, patients were excluded if they had a G-tube already placed at the time of surgery. We also performed a systematic review of the literature. Articles were excluded if they did not detail feeding outcomes after MDO, or if MDO was performed on patients that did not have RS.
RESULTS
In our systematic review, 12 articles were included that comprised a total of 209 neonates with RS that underwent MDO. A total of 174 (83.3%) patients avoided a G-tube once MDO was performed. A total of 14 patients met the inclusion criteria at our institution. Of the 14 RS patients, 9 (64%) avoided having a G-tube placed and all (14/14) avoided tracheostomy. The average birth weight of patients avoiding a G-tube was 3.11 kg compared to 2.25 kg ( = .045) in the group requiring a G-tube. In the group avoiding a G-tube, the average weight at time of operation was 3.46 kg compared to 2.83 kg ( = .037) in the group requiring a G-tube.
CONCLUSION
MDO may be considered as a surgical option to prevent G-tube placement for neonates with non-syndromic RS who have difficulty with PO feeding but whose airway obstruction is not severe enough to require respiratory support. Based on our institutional experience, a minimum weight of 3.00 kg correlated with higher success rates of PO intake and avoiding a G-tube.
Topics: Humans; Pierre Robin Syndrome; Infant, Newborn; Gastrostomy; Osteogenesis, Distraction; Retrospective Studies; Mandible; Male; Female; Enteral Nutrition; Intubation, Gastrointestinal
PubMed: 38712740
DOI: 10.1177/00034894241249547 -
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 -
Frontiers in Pediatrics 2021Cyproheptadine is a first-generation H1-antihistamine drug first that was distributed in the 1960s. While its orexigenic effect was observed early, cyproheptadine is...
Cyproheptadine is a first-generation H1-antihistamine drug first that was distributed in the 1960s. While its orexigenic effect was observed early, cyproheptadine is not yet authorized for this indication in all countries today. There is an increasing medical interest and demand for the orexigenic effect of cyproheptadine, especially in children with poor appetite. As cyproheptadine might be evaluated in future clinical trials, we wanted to assess its safety profile. Using the French national pharmacovigilance database, we retrospectively analyzed all pediatric and adult reports of adverse effects of cyproheptadine recorded since its first distribution in France. Next, we performed a systematic review of the literature of cyproheptadine adverse effects. Since 1985, 93 adverse effects were reported in the French pharmacovigilance database (adults 81.7%, children 18.3%); these were mainly neurological symptoms ( = 38, adults 71%, children 28.9%), and hepatic complications ( = 15, adults 86.7%, children 13.3%). In the literature, the most frequent adverse effect reported was drowsiness in adults or children, and five case reports noted liver complications in adults. We estimated the frequency of hepatic adverse effects at 0.27 to 1.4/1000, regardless of age. Cyproheptadine can be considered a safe drug. Mild neurological effects appear to be frequent, and hepatotoxicity is uncommon to rare. Randomized controlled trials are needed to evaluate the safety and efficacy of cyproheptadine before authorization for appetite stimulation, especially in young children as studies at this age are lacking. Possible hepatic complications should be monitored, as very rare cases of liver failure have been reported.
PubMed: 34676184
DOI: 10.3389/fped.2021.712413 -
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 -
Journal of Clinical Sleep Medicine :... Aug 2021Identifying optimal treatment for infants with Robin sequence (RS) is challenging due to substantial variability in the presentation of upper airway obstruction (UAO) in...
STUDY OBJECTIVES
Identifying optimal treatment for infants with Robin sequence (RS) is challenging due to substantial variability in the presentation of upper airway obstruction (UAO) in this population. Objective assessments of UAO and treatments are not standardized. A systematic review of objective measures of UAO was conducted as a step toward evidence-based clinical decision-making for RS.
METHODS
A literature search was performed in the PubMed and Embase databases (1990-2020) following PRISMA guidelines. Articles reporting on RS and UAO treatment were included if the following objective measures were studied: oximetry, polysomnography, and blood gas. Quality was appraised by the methodological index for nonrandomized studies (range: 0-24).
RESULTS
A total of 91 articles met the inclusion criteria. The mean methodological index for nonrandomized studies score was 7.1 (range: 3-14). Polysomnography was most frequently used (76%) followed by oximetry (20%) and blood gas (11%). Sleep position of the infant was reported in 35% of studies, with supine position most frequently, and monitoring time in 42%, including overnight recordings, in more than half. Of 71 studies that evaluated UAO interventions, the majority used polysomnography (90%), of which 61% did not specify the polysomnography technique. Reported polysomnography metrics included oxygen saturation (61%), apnea-hypopnea index (52%), carbon dioxide levels (31%), obstructive apnea-hypopnea index (27%), and oxygen desaturation index (16%). Only 42 studies reported indications for UAO intervention, with oximetry and polysomnography thresholds used equally (both 40%). In total, 34 distinct indications for treatment were identified.
CONCLUSIONS
This systematic review demonstrates a lack of standardization, interpretation, and reporting of assessment and treatment indications for UAO in RS. An international, multidisciplinary consensus protocol is needed to guide clinicians on optimal UAO assessment in RS.
CITATION
Logjes RJH, MacLean JE, de Cort NW, et al. Objective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review. . 2021;17(8):1717-1729.
Topics: Airway Obstruction; Humans; Infant; Oxygen Saturation; Pierre Robin Syndrome; Polysomnography; Sleep
PubMed: 33960296
DOI: 10.5664/jcsm.9394 -
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 -
Frontiers in Pediatrics 2018The use of long-term non-invasive ventilation (NIV) to treat sleep and breathing disorders in children has increased substantially in the last decade; however, less data...
BACKGROUND
The use of long-term non-invasive ventilation (NIV) to treat sleep and breathing disorders in children has increased substantially in the last decade; however, less data exist about its use in infants. Given that infants have distinct sleep and breathing patterns when compared to older children, the outcomes of infants on long-term NIV may differ as well. The aim of this study is to systematically review the use and outcomes of long-term NIV in infants.
METHODS
Ovid Medline, Ovid Embase, CINAHL (via EbscoHOST), PubMed, and Wiley Cochrane Library were systematically searched from January 1990 to July 2017. Studies on infants using long-term NIV outside of an acute care setting were included. Data were extracted on study design, population characteristics, and NIV outcomes.
RESULTS
A total of 327 studies were full-text reviewed, with final inclusion of 60. Studies were distributed across airway (40%), neuromuscular (28%), central nervous system (10%), cardio-respiratory (2%), and multiple (20%) disease categories. Of the 18 airway studies reporting on NIV outcomes, 13 (72%) reported improvements in respiratory parameters. Of the 12 neuromuscular studies exclusively on spinal muscular atrophy type 1 (SMA1), six (50%) reported decreased hospitalizations and nine (75%) reported on mortality outcomes. Risk of bias was moderate to serious, and quality of the evidence was low to very low for all studies. Most studies had an observational design with no control group, limiting the potential for a meta-analysis.
CONCLUSION
The outcomes reported in studies differed by the disease category being studied. Studies on airway conditions showed improvements in respiratory parameters for infants using NIV. Studies on neuromuscular disorder, which were almost exclusively on SMA1, reported decreased hospitalizations and prolonged survival. Overall, it appears that NIV is an effective long-term therapy for infants. However, the high risk of bias and low quality of the available evidence limited strong conclusions.
PubMed: 29484287
DOI: 10.3389/fped.2018.00013 -
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