Official American Thoracic Society technical standards: flexible airway endoscopy in children.

BACKGROUND: Flexible airway endoscopy (FAE) is an accepted and frequently performed procedure in the evaluation of children with known or suspected airway and lung parenchymal disorders. However, published technical standards on how to perform FAE in children are lacking. METHODS: The American Thoracic Society (ATS) approved the formation of a multidisciplinary committee to delineate technical standards for performing FAE in children. The committee completed a pragmatic synthesis of the evidence and used the evidence synthesis to answer clinically relevant questions. RESULTS: There is a paucity of randomized controlled trials in pediatric FAE. The committee developed recommendations based predominantly on the collective clinical experience of our committee members highlighting the importance of FAE-specific airway management techniques and anesthesia, establishing suggested competencies for the bronchoscopist in training, and defining areas deserving further investigation. CONCLUSIONS: These ATS-sponsored technical standards describe the equipment, personnel, competencies, and special procedures associated with FAE in children.

Difficult airway consultation service for children: steps to implement and preliminary results.

BACKGROUND: Failed airway management remains one of the most common causes of cardiopulmonary arrest in the pediatric population. Practice guidelines addressing the difficult airway (DAW) in adults provide anesthesiologists a framework for managing the airway during the perioperative period; however, similar consensus guidelines are lacking in the pediatric population. Many of the adverse events associated with difficult pediatric airway management occur outside the perioperative setting and often result in worse outcomes. The lower frequency of DAW management required in children, lesser awareness of pediatric health care professionals about DAW management, and the need for guiding principles led us to develop a DAW consultative service. This report outlines the steps to establish the Difficult Airway Service (DAS) and the initial experiences with this new consultation service. METHODS: The mission of the DAS is to identify children with known or anticipated DAWs, communicate the diagnosis and collaborate with referring medical and surgical services, and to manage children in those settings that airway management might be required in the context of the patient's ongoing medical care. RESULTS: The initial 3-month experience confirmed that a majority of pediatric DAW events are associated with congenital or acquired abnormalities. Through appropriate consultation and leadership, the DAS was able to physically and electronically identify pediatric patients with a DAW and provide management. Hospital-wide participation was instrumental in the success and exponential growth of DAS: planned preoperative tracheostomy in complicated posterior spinal fusion candidates, participation in EXIT procedures, standardization of airway carts, and implementation of education forums. CONCLUSION: In developing the DAS, our goal was to provide a more comprehensive approach to caring for a child with a DAW that included their entire hospital stay and follow-up care. We believe this approach has improved health care professional awareness as well as the safe management of routine and difficult pediatric airway. Additional studies are needed to determine whether measurable changes in morbidity and mortality are observed over time.

The Furlow palatoplasty for velopharyngeal dysfunction: velopharyngeal changes, speech improvements, and where they intersect.

OBJECTIVE: We investigated how Furlow palatoplasty changes velopharyngeal morphology and speech characteristics, as well as how the anatomical and clinical results might be related. We hypothesized that Furlow palatoplasty would result in measurable velar elongation, tightening of the genu angle, and retropositioning of the levator sling and that the achievement of these modifications might be associated with clinical speech improvement. DESIGN: Retrospective analysis of preoperative and postoperative videofluoroscopic and speech data. SETTING: Tertiary care center. PATIENTS/PARTICIPANTS: A total of 29 patients with velopharyngeal insufficiency in the setting of previous cleft palate repair or submucous cleft palate. INTERVENTIONS: Furlow palatoplasty for treatment of velopharyngeal insufficiency. OUTCOME MEASURES: Lateral videofluoroscopy and perceptual speech examination were conducted preoperatively and postoperatively in order to measure velopharyngeal dimensions and speech quality. We describe anatomical and speech changes associated with the Furlow palatoplasty and undertake an exploratory analysis of the relationship between surgical changes to the velopharynx and clinical outcomes. RESULTS: Furlow palatoplasty results in significant velar elongation, increased acuity of the genu angle, and retropositioning of the levator sling. Postoperative speech improvement was identified on the three subscales of resonance, nasal emission, and stops/plosives. Speech improvement and the absence of need for reoperation were most consistently associated with tightening of the genu angle. CONCLUSIONS: Furlow palatoplasty lengthens the palate, while both tightening and retropositioning the levator sling. These changes reflect transverse recruitment of lateral velar tissues, along with transverse tightening and anterior release of the muscle fibers, respectively. Levator tightening is most consistently associated with improved speech outcomes.

Surgical outcome and treatment trends in 1289 infants with micrognathia: a multicenter cohort.

BACKGROUND: Studies of infants with micrognathia, especially Robin Sequence (RS), are limited by its rarity and both phenotypic and diagnostic variability. Most knowledge of this condition is sourced from small, single-institution samples. METHODS: This is a cross-sectional study including infants with micrognathia admitted to 38 Children's Hospital Neonatal Consortium centers from 2010-2020. Predictor variables included demographic data, birth characteristics, cleft and syndrome status. Outcome variables included length of stay (LOS), death, feeding or respiratory support, and secondary airway operations. RESULTS: 1289 infants with micrognathia had a surgery to correct upper airway obstruction. Mean age and weight at operation were 34.8±1.8 weeks and 3515.4±42 grams, respectively. A syndromic diagnosis was made in 150 (11.6%) patients, with Stickler (5.4%) and Treacher Collins Syndromes (2.2%) most common. Operations included: mandibular distraction osteogenesis (MDO), 66.3%; tracheostomy, 25.4%; and tongue-lip adhesion (TLA), 8.3%. Tracheostomy patients had a lower birth weight, head circumference, gestational age, and APGAR scores. MDO patients were less likely to need a second airway operation compared to TLA patients (3.5%vs17.8%,p<0.001). The proportion of infants feeding exclusively orally at hospital discharge differed significantly, from most to least: MDO, TLA, tracheostomy. Hospital LOS was not statistically different for patients that had MDO and TLA, but was longer for those with primary tracheostomy. Mortality was low for all operations (0.5%). CONCLUSION: In this 1289 surgical patient cohort, MDO was associated with shorter hospital stay, improved oral feeding, and lower rates of secondary airway operations. Prospective multi-center studies are necessary to support these conclusions.

Hearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey.

BACKGROUND: Subjectively reported hearing loss is a common feature of mucopolysaccharidosis II (MPS II, Hunter syndrome). This study provides an epidemiological description of hearing loss and other otolaryngological manifestations reported by patients registered in the Hunter Outcome Survey (HOS), an international registry of patients with MPS II. METHODS: Data about ear signs and symptoms were available for 554 of the 605 patients alive at HOS entry. The degree of hearing loss for 162 pure-tone audiograms (PTAs) from 83 patients was classified by independent interpreters using both the age-specific International Institute of Standardization (ISO) 7029 standard and the age-independent World Health Organization (WHO) clinical guidelines. A linear regression analysis using cross-sectional data was conducted to investigate the relationship between hearing loss and age. RESULTS: The most prevalent otolaryngological manifestations and interventions reported were otitis (either acute otitis media or chronic otitis media [72%]), hearing loss (67%), insertion of ventilation tubes (50%), adenoidectomy (47%), and hearing aids (41%). According to the ISO standard, only one patient out of the 83 with audiogram data in HOS had normal hearing in both ears at all time points. According to the WHO classification, 16% had normal hearing; hearing loss was mild in 24%, moderate in 31%, severe in 22%, and profound in 7%. In the linear regression analysis, the hearing threshold in the cohort increased with age at an estimated rate of approximately 1 dB per year. CONCLUSIONS: Hearing impairment is common in MPS II. Early otolaryngological evaluation and intervention is recommended.

Videofluoroscopic and nasendoscopic correlates of speech in velopharyngeal dysfunction.

OBJECTIVE: To compare videonasendoscopy, lateral videofluoroscopy, and perceptual speech examination in the assessment of velopharyngeal dysfunction. DESIGN: Retrospective observational. SETTING: Multidisciplinary cleft palate team at a tertiary academic institution. PATIENTS, PARTICIPANTS: Patients who had undergone videonasendoscopy and lateral videofluoroscopy for suspected velopharyngeal dysfunction at our center were evaluated. Inclusion required that videonasendoscopy, lateral videofluoroscopy, and the perceptual speech exam were performed on the same day. A total of 88 patients were analyzed. MAIN OUTCOME MEASURE(S): Primary outcome measures included percent closure on videonasendoscopy, percent closure on lateral videofluoroscopy, and quantitative scores for hypernasal resonance, nasal emission, and facial grimace. Additional outcome measures included linear and angular anatomic measurements obtained from lateral videofluoroscopy. RESULTS: Moderately strong correlation was found between closure estimates of videonasendoscopy and lateral videofluoroscopy (ρ = .583; p < .001). Lateral videofluoroscopy estimates of closure averaged 11.7% higher than videonasendoscopy. Closure correlated moderately with overall speech severity (ρ = .304; p = .005); whereas, a stronger correlation was seen with hypernasal resonance (ρ = -.479; p < .001). Patients exhibiting grimace had worse closure than those without (79.1% versus 70.7%; p = .035). Movement angle of the velum and change in genu angle correlated significantly with closure function (ρ = -.304; p = .034 and ρ = -.395; p < .001, respectively). CONCLUSIONS: Videonasendoscopy and lateral videofluoroscopy closure estimates correlated moderately. Lateral videofluoroscopy tended to give smaller gap estimates. Hypernasal resonance and facial grimace are useful clinical indicators of large gap size. Velar movement angle and change in genu angle were identified as anatomical correlates of closure function.

Predictors of Occurrence and Timing of Post-Tonsillectomy Hemorrhage: A Case-Control Study.

OBJECTIVE: To describe cases and timing of pediatric post-tonsillectomy hemorrhage (PTH), to evaluate predictors of PTH, and to determine the optimal amount of postoperative care unit (PACU) monitoring time. STUDY DESIGN: Using the Pediatric Health Information System (PHIS) database and electronic medical records, a matched case-control study from 2005 to 2015 was performed. SETTING: A single, tertiary-care institution. SUBJECTS AND METHODS: Each case of PTH was matched with 1 to 4 controls for the following factors: age, sex, surgeon, and time of year. A total of 124 cases of PTH and 479 tonsillectomy controls were included. The rate and timing of postoperative bleeding were assessed, and matched pair analysis was performed using conditional logistic regression. RESULTS: Our institutional PTH rate of 1.9% (130 of 6949) included 124 patients; 15% (19) were primary (≤24 hours), with 50% (9) occurring within 5 hours. Twenty-one percent (4 of 19) of primary PTH patients received operative intervention. Eighty-five percent (105 of 124) of all cases were secondary PTH, and 47% (49) of those patients received operative intervention. Cold steel (OR 1.9, 95% CI 1.1-3.3) and Coblation (OR 1.9, 95% CI 1.2-3.1) techniques and tonsillectomy alone (OR 3.7, 95% CI 1.9-7.2) increased odds of PTH. Patients who developed PTH had 4 times the odds of having a preceding postoperative respiratory event than controls (OR 4.0, 95% CI 1.6-10.0). CONCLUSION: We conducted a rigorous case-control study for PTH, finding that PTH was associated with use of cold steel and Coblation techniques and with tonsillectomy alone. Patients with a postoperative respiratory event may be more likely to develop a PTH and should be counseled accordingly. A PACU monitoring time of 4 hours is sufficient for outpatient tonsillectomy.

Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disease arising from motile ciliary dysfunction and associated with recurrent and chronic upper and lower respiratory tract infections. Pediatric otolaryngologists may see these patients prior to the development of lung disease. Features of PCD may overlap with other suppurative respiratory diseases, creating diagnostic challenges. A simple screening tool would be beneficial to identify potential patients who have chronic upper respiratory tract disease requiring further specialist evaluation. OBJECTIVE: To test a simple screening tool consisting of four questions to detect PCD in children with chronic otitis media and chronic rhinosinusitis seen in a tertiary otolaryngology clinic. METHODS: A prospective, single site, observational study in a tertiary care pediatric otolaryngology clinic. Children aged 3-17 years diagnosed with chronic otitis media or rhinosinusitis with onset at less than 2 years of age were recruited. All study subjects had at least one of four key clinical features for PCD as determined by answers to screening questions, while control subjects had none. All participants completed a medical history questionnaire and nasal nitric oxide measurements. Those with reduced nasal nitric oxide levels were referred to our PCD center for further evaluation. RESULTS: A total of 153 patients were screened and 62 subjects were enrolled. Of those, 35 were enrolled as study subjects and 27 as matched controls. Study subjects had mean age of 7.5 years (3.2-16.5) with pre-screening diagnosis of chronic otitis media (n = 29) or chronic rhinosinusitis (n = 6). Control subjects (n = 27) had mean age 7.2 years (3.0-16.3) with pre-screening diagnosis of chronic otitis media (n = 25), and chronic rhinosinusitis (n = 2). There were no differences in subject demographics or mean nasal nitric oxide values between the two groups (179.8 vs 210.8 nl/min). Ten individuals had low nasal nitric oxide values, 7 of which were normal on repeat testing. Three subjects failed to return for follow up evaluations. Four referrals were made for further evaluation on the basis of clinical symptoms and nasal nitric oxide results. While no new cases of PCD were detected, a subject and his sibling with recurrent sinopulmonary infections were referred for immunologic evaluation. CONCLUSION: The use of standardized screening questions can be used in an otolaryngology clinic to identify patients who require further evaluation for PCD or primary immunodeficiency.

Competency-Based Assessment Tool for Pediatric Esophagoscopy: International Modified Delphi Consensus.

OBJECTIVES/HYPOTHESIS: Create a competency-based assessment tool for pediatric esophagoscopy with foreign body removal. STUDY DESIGN: Blinded modified Delphi consensus process. SETTING: Tertiary care center. METHODS: A list of 25 potential items was sent via the Research Electronic Data Capture database to 66 expert surgeons who perform pediatric esophagoscopy. In the first round, items were rated as "keep" or "remove" and comments were incorporated. In the second round, experts rated the importance of each item on a seven-point Likert scale. Consensus was determined with a goal of 7 to 25 final items. RESULTS: The response rate was 38/64 (59.4%) in the first round and returned questionnaires were 100% complete. Experts wanted to "keep" all items and 172 comments were incorporated. Twenty-four task-specific and 7 previously-validated global rating items were distributed in the second round, and the response rate was 53/64 (82.8%) with questionnaires returned 97.5% complete. Of the task-specific items, 9 reached consensus, 7 were near consensus, and 8 did not achieve consensus. For global rating items that were previously validated, 6 reached consensus and 1 was near consensus. CONCLUSIONS: It is possible to reach consensus about the important steps involved in rigid esophagoscopy with foreign body removal using a modified Delphi consensus technique. These items can now be considered when evaluating trainees during this procedure. This tool may allow trainees to focus on important steps of the procedure and help training programs standardize how trainees are evaluated. LEVEL OF EVIDENCE: 5. Laryngoscope, 131:1168-1174, 2021.

Primary ciliary dyskinesia in Amish communities.

Primary ciliary dyskinesia is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, on the basis of clinical characteristics and ciliary ultrastructural defects. Despite consanguinity, affected individuals had evidence of genetic heterogeneity.

Competency-Based Assessment Tool for Pediatric Tracheotomy: International Modified Delphi Consensus.

OBJECTIVES/HYPOTHESIS: Create a competency-based assessment tool for pediatric tracheotomy. STUDY DESIGN: Blinded, modified, Delphi consensus process. METHODS: Using the REDCap database, a list of 31 potential items was circulated to 65 expert surgeons who perform pediatric tracheotomy. In the first round, items were rated as "keep" or "remove," and comments were incorporated. In the second round, experts were asked to rate the importance of each item on a seven-point Likert scale. Consensus criteria were determined a priori with a goal of 7 to 25 final items. RESULTS: The first round achieved a response rate of 39/65 (60.0%), and returned questionnaires were 99.5% complete. All items were rated as "keep," and 137 comments were incorporated. In the second round, 30 task-specific and seven previously validated global rating items were distributed, and the response rate was 44/65 (67.7%), with returned questionnaires being 99.3% complete. Of the Task-Specific Items, 13 reached consensus, 10 were near consensus, and 7 did not achieve consensus. For the 7 previously validated global rating items, 5 reached consensus and two were near consensus. CONCLUSIONS: It is feasible to reach consensus on the important steps involved in pediatric tracheotomy using a modified Delphi consensus process. These items can now be considered to create a competency-based assessment tool for pediatric tracheotomy. Such a tool will hopefully allow trainees to focus on the important aspects of this procedure and help teaching programs standardize how they evaluate trainees during this procedure. LEVEL OF EVIDENCE: 5 Laryngoscope, 130:2700-2707, 2020.

Pediatric laryngeal dimensions: an age-based analysis.

BACKGROUND: In children, the cricoid is considered the narrowest portion of the "funnel-shaped" airway. Growth and development lead to a transition to the more cylindrical adult airway. A number of airway decisions in pediatric airway practice are based on this transition from the pediatric to the adult airway. Our primary aim in this study was to measure airway dimensions in children of various ages. The measures of the glottis and cricoid regions were used to determine whether a transition from the funnel-shaped pediatric airway to the cylindrical adult airway could be identified based on images obtained from video bronchoscopy. METHODS: One hundred thirty-five children (ASA physical status 1 or 2) aged 6 mo to 13 yr were enrolled for measurement of laryngeal dimensions, including cross-sectional area (G-CSA), anteroposterior and transverse diameters at the level of the glottis and the cricoid (C-CSA), using the video bronchoscopic technique under general anesthesia. RESULTS: Of the 135 children enrolled in the study, seven patients were excluded from the analysis mainly because of poor image quality. Of the 128 children studied (79 boys and 49 girls), mean values (+/-standard deviation) for the demographic data were age 5.9 (+/-3.3) yr, height 113.5 (+/-22.2) cm and weight 23.5 (+/-13) kg. Overall, the mean C-CSA was larger than the G-CSA (48.9 +/- 15.5 mm(2) vs 30 +/- 16.5 mm(2), respectively). This relationship was maintained throughout the study population starting from 6 mo of age (P < 0.001, r = 0.45, power = 1). The mean ratio for C-CSA: G-CSA was 2.1 +/- 1.2. There was a positive correlation between G- and the C-CSA versus age (r = 0.36, P < 0.001; r = 0.27, P = 0.001, respectively), height (r = 0.34, P < 0.001; r = 0.29, P < 0.001, respectively), and weight (r = 0.35, P < 0.001; r = 0.25, P = 0.003, respectively). No significant gender differences in the mean values of the studied variables were observed. CONCLUSION: In this study of infants and children, the glottis rather than cricoid was the narrowest portion of the pediatric airway. Similar to adults, the pediatric airway is more cylindrical than funnel shaped based on these video bronchoscopic images. Further studies are needed to determine whether these static airway measurements in anesthetized and paralyzed children reflect the dynamic characteristics of the glottis and cricoid in children.

Upper airway dimensions in children using rigid video-bronchoscopy and a computer software: description of a measurement technique.

BACKGROUND: Pediatric airway management decisions are based primarily on results derived from indirect measures of laryngeal and tracheal dimensions. More recent methods could provide more direct information about absolute and relative changes in airway dimensions associated with growth and development. STUDY OBJECTIVES: The aims of this study were (i) to determine whether a 'video-bronchoscopic' measurement method could be used to reliably measure airway dimensions in children and (ii) to provide a preliminary assessment of dimensions of the glottis and cricoid in children of various ages. METHODS: Following approval from the institutional review board, validation experiments were performed to determine whether measurements obtained from the video image from the bronchoscope provided accurate measurements of tubular objects of known dimensions. The reliability of the measurements was determined by using two independent trained observers to measure video-bronchoscopic images of the larynx at the level of the glottis and the cricoid in 11 children. The observers measured the video-bronchoscopic images and airway measurements were obtained in 16 additional children to determine the utility of the measurement method. RESULTS: There was good agreement between the direct and video-bronchoscopic measurement techniques (Bland and Altman plot) for both the cross-sectional area (CSA) and the diameter of objects. The interobserver measures for cricoid and glottis were reproducible as indicated by the concordance correlation coefficient (CCC) for cricoid anteroposterior diameter (CCC = 0.98, r = 0.98, accuracy = 0.99) and transverse diameter (CCC = 0.93, r = 0.8, accuracy = 0.99) as well as for the glottic anteroposterior diameter (r = 0.8, accuracy = 0.8, CCC = 0.6) and the glottic transverse diameter(r = 0.8, accuracy = 0.74, CCC = 0.6). Overall, for the 27 children studied [mean age 73 months (+/-24.7, range 30-140], the mean value of the cricoid CSA [45.3 mm(2) (+/-13.9)] was found to be greater than the glottic CSA [16.2 mm(2) (+/-10.1)]. CONCLUSIONS: The video-bronchoscopic imaging method provided an accurate, reliable measure of pediatric airway dimensions. This technique could be applied to assess absolute and relative airway size associated with growth and development. The relationship between glottic and cricoid dimensions during growth and development in children needs further investigation across various age groups.

Hearing loss in pediatric patients with isolated nonsyndromic sagittal synostosis.

OBJECTIVE: Recent studies have shown increased rates of speech, language, cognitive and behavioral abnormalities in patients with isolated nonsyndromic sagittal synostosis. Little is known regarding the prevalence and type of hearing abnormalities in children with craniosynotosis. This study characterizes hearing loss in pediatric patients with isolated nonsyndromic sagittal synostosis. METHODS: Retrospective chart review of isolated nonsyndromic sagittal synostosis patients in a pediatric craniofacial clinic to determine the prevalence, severity, and type of hearing loss. RESULTS: Fifteen of 57 patients with isolated nonsyndromic sagittal synostosis had hearing loss (26% with a 95% confidence interval of 14.9 to 37.7%). Twelve patients demonstrated a conductive loss and three an unspecified type of loss (no bone conduction thresholds were recorded for these patients). The prevalence of conductive hearing loss in our population was 21% with a 95% confidence interval of 10.4 to 31.6%. All cases of hearing loss were mild or moderate in severity. CONCLUSIONS: The most common hearing impairment in patients with isolated nonsyndromic sagittal synostosis is conductive hearing loss likely secondary to middle ear effusion. These patients do not appear to have a higher frequency of middle ear effusion and conductive hearing loss than the normal population of comparable age. We conclude that there is no evidence of increased risk of hearing loss in our study population. We infer that hearing loss does not play a causative role in the elevation of risk for speech, language, behavioral and cognitive impairments which these patients experience. Health care professionals are obligated to ensure that conductive loss from middle ear effusion does not exacerbate these impairments. This obligation can safely be performed by managing hearing loss in the INSS population similar to hearing loss in comparably aged normal children.

An Evidence-Based Practical Approach to Pediatric Otolaryngology in the Developing World.

Despite humanitarian otolaryngology groups traveling in record numbers to resource-limited areas treating pediatric otolaryngology disease processes and training local providers, there remains a large burden of unmet needs. There is a meager amount of published information that comes from the developing world from an otolaryngology standpoint. As would be expected, the little information that does comes involves some of the most common pediatric otolaryngology diseases and surgical burdens including childhood hearing loss, otitis media, adenotonsillectomies, airway obstructions requiring tracheostomies, foreign body aspirations, and craniomaxillofacial surgeries, including cleft lip and palate.

Giant intracranial teratoma with epignathus in a neonate. Case report and review of the literature.

Epignathus, a congenital oropharyngeal teratoma, is a rare clinical entity with variable clinical outcomes described in the literature. Even fewer cases of epignathus with intracranial extension have been reported, all with poor outcomes. In this manuscript, the authors present a case of epignathus with intracranial extension, emphasizing clinical presentation, imaging findings, a staged surgical approach, multidisciplinary management, and outcome.

Unique medical issues in adult patients with mucopolysaccharidoses.

The mucopolysaccharidoses are a group of inherited metabolic diseases caused by deficiencies in enzymes involved in the sequential degradation of glycosaminoglycans (GAGs) leading to substrate accumulation in various tissues and organs. GAG accumulation can cause growth retardation and progressive damage to respiratory, cardiovascular, musculoskeletal, nervous, gastrointestinal, auditory, and visual systems. In the past, few people with severe phenotypic mucopolysaccharidosis (MPS) reached adulthood. However, better methods for diagnosis, multi-disciplinary care, and new therapies have extended lifespan, leading to an increasing number of patients surviving beyond childhood. The growing number of adult MPS patients poses significant challenges for clinicians who may not be familiar with the clinical manifestations of MPS. In addition, as new interventions have changed the natural history of these disorders, it is difficult to anticipate both the impact on life expectancy and other complications that may occur as these patients age. Because the MPS disorders are multi-organ diseases, their management requires a coordinated multi-disciplinary approach. Here we discuss the unique pattern of medical issues and multi-organ involvement in adult patients with MPS and identify the challenges that are associated with management of MPS. This review is based on information from an expert investigator meeting with MPS specialists held October 2-4, 2014 in Dublin, Ireland, as well as on current literature searches focusing on MPS and adults.

Sinonasal posttransplant lymphoproliferative disorder in pediatric lung transplant patients.

OBJECTIVE: To evaluate sinonasal manifestations of posttransplant lymphoproliferative disorder (PTLD) in the pediatric lung transplant population. STUDY DESIGN AND METHODS: Case series of children less than 18 years presenting with PTLD after pulmonary transplantation at St Louis Children's Hospital between Jan 1, 1990 and Dec 31, 2003. RESULTS: Two hundred eighty-two lung transplants were performed in 246 children. Thirty-two cases of histopathologically confirmed PTLD were identified with 8 (25%) presenting in the head and neck. Sinonasal PTLD was the most common site of head and neck involvement (63%), with 40% of patients presenting with occult disease. All patients with sinonasal PTLD had longstanding nasal polyposis related to cystic fibrosis (P = 0.07). CONCLUSIONS: This is, to our knowledge, the first report identifying an increased frequency of sinonasal PTLD after pediatric pulmonary transplantation, particularly in children with cystic fibrosis and associated nasal polyposis. Because sinonasal PTLD may be asymptomatic, this region should receive close scrutiny on surveillance evaluations.

Otologic and audiologic features of Nager acrofacial dysostosis.

OBJECTIVE: To describe the otologic and audiologic characteristics of pediatric patients with Nager acrofacial dysostosis. DESIGN: Retrospective case series. SETTING: Multidisciplinary clinic in a tertiary care children's hospital. SUBJECTS: Patients less than 18 years of age with Nager acrofacial dysostosis. METHODS: Nager syndrome is a mandibulofacial dysostosis associated with preaxial limb abnormalities and multiple craniofacial anomalies. Ten patients with Nager syndrome were reviewed. Relevant literature, 1966 to the present, was reviewed with the assistance of Medline. RESULTS: External and middle ear abnormalities are common in Nager syndrome. All non-atretic ears had significant difficulty with otitis media, requiring an average of two sets of tympanostomy tubes. Cholesteatoma was diagnosed in one patient. Pure conductive hearing loss was identified in eight patients with mixed hearing loss noted in two patients. Conductive hearing loss greater than 30 dB HL was noted in 90% (9/10) of patients, with 40% (4/10) having 55-70 dB HL loss. Although amplification was effective, results of surgical interventions to correct conductive hearing loss were inconsistent. Two patients with mixed hearing loss developed the sensorineural component in later childhood, indicating that progressive or fluctuating sensorineural hearing loss is also possible in this population. CONCLUSIONS: Pediatric patients with Nager acrofacial dysostosis exhibit conductive hearing loss due to middle and external ear pathology. Prolonged ventilation of the middle ear via tympanostomy tubes and amplification with hearing aids are often required. Some patients also demonstrate mixed hearing loss that may be progressive and should be monitored carefully. Early and aggressive management in a multidisciplinary team approach is recommended.

Overnight pulse oximetry for evaluation of sleep apnea among children with trisomy 21.

STUDY OBJECTIVES: For children with trisomy 21, polysomnography at age 4 to assess obstructive sleep disordered breathing (OSDB) is the standard of care. Oximetry alone has been used to screen for disease among children without trisomy 21. This study evaluates the potential usefulness of oximetry scoring in diagnosing OSDB among children with trisomy 21. METHODS: A McGill oximetry score from 1 to 4 was derived from a full overnight PSG done on 119 consecutive pediatric subjects with trisomy 21. Most were referred to the sleep laboratory because of suspicion for OSDB. Oximetry scorers were blinded to the child's full PSG and clinical course. Results of the complete PSG were then compared to oximetry scores. RESULTS: Obstructive apnea-hypopnea index (OAHI) was ≥ 2.5 for 50% of all subjects. Fifty-nine subjects (49.6%) had McGill Score 1 ("inconclusive"); median OAHI was 1.0 (IQR 0.4-3.3). McGill Score was 2 for 43 subjects (36.1%); median OAHI was 4.5 (IQR 1.3-8.8). Seventeen subjects (14.3%) had McGill Scores of 3 or 4; median OAHI was 16.1 (IQR 9.3-45.5, range 2.1 to 101.1). Ten percent of subjects had a considerable number of central events (≥ 2.5 respiratory events/h but OAHI < 2.5), including 7 with McGill Score 2. CONCLUSIONS: In a retrospective cohort of children with trisomy 21, McGill oximetry scores of 3 or 4 reliably identified patients with marked OSDB. The possibility of central apneas causing hypoxemia must be considered in those with McGill Score 2. With these caveats, oximetry screening should be considered when developing streamlined protocols for early intervention to treat OSDB in this population.