The Montreal Children's Hospital Experience Managing Robin Sequence: An Analysis of Outcomes and Algorithm for Surgical Technique Selection.

BACKGROUND: The development of mandibular distraction osteogenesis (MDO) and tongue-lip adhesion (TLA) has led to significant improvements in respiratory outcomes for the Robin sequence (RS) population. Despite such advances, there continues to be debate regarding management strategies. The authors present their experience managing the RS population with insights on technique selection. METHODS: A retrospective review of RS patients treated at the senior author's institution from 2003 to 2021 was conducted. Baseline patient demographics and clinical parameters including feeding and respiratory status were recorded. Outcomes included the need for tracheostomy or tracheostomy, decannulation rates, and feeding status. Patients were evaluated through overnight oximetry and drug-induced sleep endoscopy (DISE). Outcomes were stratified according to management technique (MDO, TLA, versus conservative) and compared through statistical analysis. RESULTS: Fifty-nine RS patients were included. Twenty-eight were managed conservatively, 19 underwent MDO, 10 underwent TLA, one underwent both TLA and MDO, and one underwent tracheostomy primarily. Overall, 1.7% of the cohort required a tracheostomy and 86% achieved oral feeding after the procedure. The MDO cohort had lower Apgar scores and mean birth weight compared with the conservative and TLA cohorts ( P < 0.05). There were no statistical differences in respiratory and feeding outcomes across all three cohorts. CONCLUSIONS: A therapeutic algorithm was developed with insight into the use of DISE and risk stratification with overnight oximetry to guide procedural selection. Using this approach, safe and satisfactory respiratory outcomes were achieved with a low tracheostomy rate. Risk stratification is possible without polysomnography, and DISE is a promising tool (that requires further validation) for procedural selection in this population. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Outcome Following Surgical Interventions for Micrognathia in Infants With Pierre Robin Sequence: A Systematic Review of the Literature.

BACKGROUND: Tongue-lip adhesion (TLA), mandibular distraction osteogenesis (MDO), and subperiosteal release of the floor of the mouth (SPRFM) are the most commonly performed surgical procedures to treat severe airway obstruction in infants born with Pierre Robin sequence (PRS). OBJECTIVES: To determine the rate of failure of each type of procedure, in terms of mortality and the need for tracheostomy, and to determine what proportion of infants have significant airway obstruction postoperatively as determined by polysomnography (PSG) and compare the data by procedure type. METHOD: A comprehensive literature search (1981 through June 2015) was done of the National Library of Medicine database using PubMed. Extracted data included diagnosis, type of surgery, and outcome including mortality, need for postoperative tracheostomy and details of PSG. Persistence of significant airway obstruction was defined as an apnea-hypopnea index >15 events/h on PSG. RESULTS: Both mortality rate and need for tracheostomy were low for all procedures. Many studies lacked sufficient detail to identify significant airway obstruction postoperatively. In studies with sufficient data, MDO was associated with the lowest percentage of significant airway obstruction postprocedure (3.6%) compared to 50% for infants who underwent TLA. Insufficient PSG data was available for patients who were treated with SPRFM. CONCLUSIONS: There is a paucity of objective PSG data to definitively assess postoperative airway outcomes for PRS. MDO appears to be the most effective technique based on the available PSG data. Standardized use of PSG may lead to better identification and treatment of patients at risk for suboptimal airway outcomes postoperatively.

International comparison of sudden unexpected death in infancy rates using a newly proposed set of cause-of-death codes.

BACKGROUND: Comparing rates of sudden unexpected death in infancy (SUDI) in different countries and over time is difficult, as these deaths are certified differently in different countries, and, even within the same jurisdiction, changes in this death certification process have occurred over time. AIMS: To identify if International Classification of Diseases-10 (ICD-10) codes are being applied differently in different countries, and to develop a more robust tool for international comparison of these types of deaths. METHODS: Usage of six ICD-10 codes, which code for the majority of SUDI, was compared for the years 2002-2010 in eight high-income countries. RESULTS: There was a great variability in how each country codes SUDI. For example, the proportion of SUDI coded as sudden infant death syndrome (R95) ranged from 32.6% in Japan to 72.5% in Germany. The proportion of deaths coded as accidental suffocation and strangulation in bed (W75) ranged from 1.1% in Germany to 31.7% in New Zealand. Japan was the only country to consistently use the R96 code, with 44.8% of SUDI attributed to that code. The lowest, overall, SUDI rate was seen in the Netherlands (0.19/1000 live births (LB)), and the highest in New Zealand (1.00/1000 LB). SUDI accounted for one-third to half of postneonatal mortality in 2002-2010 for all of the countries except for the Netherlands. CONCLUSIONS: The proposed set of ICD-10 codes encompasses the codes used in different countries for most SUDI cases. Use of these codes will allow for better international comparisons and tracking of trends over time.

Pierre Robin sequence: review of diagnostic and treatment challenges.

Pierre Robin sequence is not a rare condition and paediatric specialists caring for respiratory related issues are likely to encounter cases in their practice. There have been a few recent reviews on the topic, mostly focusing on the surgical interventions performed for cases with severe airway obstruction. In the present review, we will highlight the different challenges that remain today in the global evaluation of infants afflicted with this condition through a thorough review of the medical literature, giving the clinician a full scope of the disease and of the various management options. The need for an improved objective evaluation of airway obstruction and for a better classification will be emphasized. We are therefore proposing a novel classification scheme that will better account for respiratory and feeding difficulties in these infants. Finally, many knowledge gaps persist regarding this condition, underlining the necessity for further research both in the genetic field and regarding the outcome of therapy.

Apparent life-threatening events: assessment, risks, reality.

Apparent life-threatening events (ALTEs), because of their prevalence as well as their potential to hide serious diseases and consume significant medical resources, remain a challenge for physicians caring for infants. In this review, we focused on the assessment of the well-appearing infant for the most serious diagnoses, namely serious bacterial infections, seizure disorders, child abuse, metabolic disorders and severe apnoea with hypoxemia. Our extensive review of the literature has highlighted the difficulties physicians are facing in this evaluation, especially for the youngest infants (aged less than 2 months). Large-scale prospective studies are needed to identify risk factors and to guide physicians as to who should be investigated and the minimal investigation needed to avoid missing such conditions as serious bacterial infection, abusive head injury or repeated severe cardiorespiratory events. While infants with severe forms of metabolic disorders typically present with evident signs and symptoms, less severe forms of metabolic disorders, seizure disorders, and some forms of child abuse will often be diagnosed only when recurrent events are investigated.

Investigating sudden unexpected death in infancy and early childhood.

Sudden unexpected death is one of the most frequent ways of dying in the first year of life after the neonatal period. It is however, much less frequent after the first birthday. Investigations into the cause of death are very important, for a significant proportion of these sudden deaths can be explained only after a thorough investigation. Of the causes identified, infection is the most frequent cause; metabolic disorders and cardiovascular diseases play a role as well, although the proportion of cases is much smaller. There is now evidence that cardiac channel gene mutations also play an important role; however, identification of these conditions relies on costly testing that is not readily or widely available. The physician's role as primary care provider is critical in ensuring that families understand the results of the investigation into their child's death. It is important that everything be done to identify the cause of death so that no such tragedy recurs in the same family.

Risk factors for extreme events in infants hospitalized for apparent life-threatening events.

OBJECTIVE: To determine whether known risk factors for cardiorespiratory illnesses will help identify infants who could experience extreme events during an admission for an apparent life-threatening event (ALTE) or later at home. STUDY DESIGN: Retrospective cohort study of all patients admitted for ALTE between 1996 and 2006. Extreme events included central apnea >30 seconds, bradycardia >10 seconds, and desaturation >10 seconds at hemoglobin-oxygen saturation value with pulse oximetry <80%. RESULTS: Of the 625 patients included in the study, 46 (7.4%) had extreme cardiorespiratory events recorded, usually within 24 hours of hospital admission. The most frequent diagnosis was upper respiratory tract infection (URTI, 30 infants). These factors increased the likelihood of having extreme events (P < .0001): post-conceptional age <43 weeks (5.2-fold increase), premature birth (6.3-fold), and URTI symptoms (11.2-fold). The most frequent events were extreme desaturations (43/46 infants), preceded by a central apnea. Seven infants had extreme events recorded later during home monitoring (4 with URTI); all 7 infants had sustained extreme events in the hospital. CONCLUSION: Extreme events were identified mostly in association with symptoms of URTIs, in infants born prematurely, and in infants <43 weeks post-conceptional age. Monitoring with a pulse oximeter should identify infants who sustain these events.

Lung involvement in juvenile onset recurrent respiratory papillomatosis: a systematic review of the literature.

OBJECTIVES: Determine the exact incidence of pulmonary involvement in recurrent respiratory papillomatosis (RRP); explore available treatments and their effectiveness; determine the characteristics of cases that progress to lung cancer. DATA SOURCES: MEDLINE, EMBASE, and the Cochrane Library databases between 1966 and 2007; reference lists of retrieved publication. STUDY SELECTION: Studies investigating recurrent respiratory papillomatosis with lung involvement. Age limited to 20 years of age to qualify for the diagnosis of juvenile-onset RRP. DATA EXTRACTION: Data pertaining to study design, population demographics, risk factors, site of involvement, investigation including the determination of the human papillomavirus type, treatment, and outcomes including the development of cancer. DATA SYNTHESIS: No randomized control trials were retrieved. Hundred and one studies met our inclusion criteria (23 cohorts, 4 case series, 72 case reports, 2 open trials) with 161 cases of lung involvement identified. From the cohort studies we could estimate the incidence of lung involvement in RRP at 3.3%. The incidence of cancer in cases with lung involvement was 16%. We could not draw conclusions regarding treatment effectiveness in lung involvement, as that was not evaluated except in case studies. It would nevertheless appear that Interferon is not effective and the use of intravenous Cidofovir needs to be better evaluated. CONCLUSION: Well-designed, hypothesis-driven randomized control trials and prospective cohort studies are warranted to improve our understanding of the mechanisms underlying the development of lung involvement in RRP, the risks associated with different HPV types, the efficacy of potential therapeutic options as well as the risk of progression to cancer.

Prolonged, documented home-monitoring of oxygenation in infants and children.

RATIONALE: Although home cardiorespiratory monitors have been used for a few decades, they do not give information on oxygenation status during events. Pulse oximeters with low false-alarm rates are now available but with no standards for alarm adjustment. OBJECTIVE: To determine, in a population of children monitored at home with a pulse oximeter, whether the chosen alarm levels could safely identify potentially significant events early on but also limit the number of alarms for non-significant events. METHODS: Retrospective cohort study of all children monitored at home with a pulse oximeter (n = 37) between 2002 and 2007. Clinical information and Hb-O(2) saturation (SpO(2)) recordings were reviewed. Audible alarm was set-up when SpO(2) reached 85% with a delay of 5 or 10 sec. RESULTS: A total of 24,127 hr of valid data were available for analysis. There were 13,228 events >4 sec of which 9177 (69%) were events lasting <10 sec. We determine that, with an audible alarm being triggered when SpO(2) reached 85% with no delay or a delay of 5 or 10 sec, audible alarms would have occurred at a rate of 3.6, 0.9, and 0.2 alarm/night (median), respectively. Thirteen patients needed intervention following alarms. Ten patients were readmitted to the hospital on the basis of increased frequency of alarms confirmed as true events on the recordings, but in the absence of clinical deterioration. CONCLUSION: The monitor was able to alert parents as to potentially dangerous events while the alarm adjustment limited the number of alarms for non-significant events.

Benefits and harms associated with the practice of bed sharing: a systematic review.

OBJECTIVE: To examine evidence of benefits and harms to children associated with bed sharing, factors (eg, smoking) altering bed sharing risk, and effective strategies for reducing harms associated with bed sharing. DATA SOURCES: MEDLINE, CINAHL, Healthstar, PsycINFO, the Cochrane Library, Turning Research Into Practice, and Allied and Alternative Medicine databases between January 1993 and January 2005. STUDY SELECTION: Published, English-language records investigating the practice of bed sharing (defined as a child sharing a sleep surface with another individual) and associated benefits and harms in children 0 to 2 years of age. DATA EXTRACTION: Any reported benefits or harms (risk factors) associated with the practice of bed sharing. DATA SYNTHESIS: Forty observational studies met our inclusion criteria. Evidence consistently suggests that there may be an association between bed sharing and sudden infant death syndrome (SIDS) among smokers (however defined), but the evidence is not as consistent among nonsmokers. This does not mean that no association between bed sharing and SIDS exists among nonsmokers, but that existing data do not convincingly establish such an association. Data also suggest that bed sharing may be more strongly associated with SIDS in younger infants. A positive association between bed sharing and breastfeeding was identified. Current data could not establish causality. It is possible that women who are most likely to practice prolonged breastfeeding also prefer to bed share. CONCLUSION: Well-designed, hypothesis-driven prospective cohort studies are warranted to improve our understanding of the mechanisms underlying the relationship between bed sharing, its benefits, and its harms.

Home and hospital monitoring for ALTE.

Apparent life-threatening events (ALTE) results from various causes. Documented monitoring of cardiorespiratory parameters and Hb-O(2) saturation by pulse oximetry (SpO(2)) has proven useful in the identification of significant events both in hospital and at home. Home monitoring might be especially helpful for infants with recurrent but infrequent clinical events not captured during a hospital admission.

Fetal hemoglobin synthesis determined by gamma-mRNA/gamma-mRNA + beta-mRNA quantitation in infants at risk for sudden infant death syndrome being monitored at home for apnea.

OBJECTIVE: Fetal hemoglobin (HbF) levels in the hemolysates obtained from infants who died from sudden infant death syndrome (SIDS) are reported to be markedly increased compared with controls. This finding could have been explained by increased HbF synthesis caused by episodes of hypoxemia in the SIDS infants. A prospective study in a group of infants being monitored at home after an apparent life-threatening event (ALTE) and considered at increased risk for SIDS was conducted with an improved ribonuclease protection assay. The ribonuclease protection assay allowed for the quantitation of [gamma/(gamma+beta)]-globin mRNAs, which has a highly significant correlation with the levels of HbF synthesis. METHODS: Thirty-five infants who were admitted for an ALTE were included in the study. All infants were at home under surveillance with a cardiorespiratory monitor and followed in an apnea clinic with monthly appointments. Seventy-three blood samples were obtained between 38 and 61 weeks of postconceptional age. For control purposes, a similar group of 37 normal infants (99 samples) whose HbF synthesis was previously determined were included. RESULTS: Mean [gamma/(gamma+beta)]-globin mRNAs were increased in the ALTE group at 42 to 45 and 46 to 49 weeks of postconceptional age (mean: 55.2 +/- 17.4% and 33.9 +/- 14%) in comparison with HbF synthesis in controls (mean: 42.6 +/- 13.7% and 23.6 +/- 9.8%). CONCLUSIONS: The data obtained in this report from infants who were considered at risk for SIDS show that HbF synthesis is increased between 42 and 49 weeks of postconceptional age. Determining HbF synthesis as described in this study may have value as a marker for episodes of hypoxemia for certain infants who are at risk for SIDS.

Cardiac pathology in sudden unexpected infant death.

OBJECTIVES: To determine the spectrum of cardiac pathology and circumstances of death in infants with sudden unexpected death and to define the impact of sudden cardiac deaths to overall sudden infant death. STUDY DESIGN: Retrospective analysis of all autopsies of infants with sudden death 7 days to 2 years of age between January 1987 and December 1999 in the province of Québec (Canada). RESULTS: Eighty-two cases of sudden death with cardiac pathology were found, representing 10% of the total number of sudden infant deaths. A structural malformation was present in the majority of cases (54%); however, cardiac pathology in anatomically normal hearts was also common (46%). Most (64%) anatomic malformations were detected before death compared with 13% of nonstructural heart disease. Although a major proportion of children were found dead during sleep, a significant number were described as being awake at time of death (32%). CONCLUSIONS: Heart disease is present in a significant percentage of autopsies of infants with sudden death. Structural heart malformations predominate, although nonstructural pathologic features of the heart are common and usually unrecognized before an autopsy is performed. Cardiac pathologic features are frequent when the child is witnessed to be awake at the time of sudden death.