Faculty Bibliography

OBJECTIVE:Familial dysautonomia (FD) is an autosomal recessive disorder characterized by impaired development of sensory and afferent autonomic nerves. Untreated sleep-disordered breathing (SDB) has been reported to increase the risk of sudden unexpected death in FD. We aimed to describe the prevalence and characteristics of SDB in FD. PATIENTS/METHODS/METHODS:measurements during different sleep stages. RESULTS:Overall, 85% of adults and 91% of pediatric patients had some degree of SDB. Obstructive sleep apneas were more severe in adults (8.5 events/h in adults vs. 3.5 events/h in children, p = 0.04), whereas central apneas were more severe (10.8 vs. 2.8 events/h, p = 0.04) and frequent (61.8% vs. 45%, p = 0.017) in children. Overall, a higher apnea-hypopnea index was associated with increased severity of hypoxia and hypoventilation, although in a significant fraction of patients (67% and 46%), hypoxemia and hypoventilation occurred independent of apneas. CONCLUSION/CONCLUSIONS:monitoring during polysomnography in all patients with FD to detect SDB.

Aerodigestive programs provide coordinated interdisciplinary care to pediatric patients with complex congenital or acquired conditions affecting breathing, swallowing, and growth. Although there has been a proliferation of programs, as well as national meetings, interest groups and early research activity, there is, as of yet, no consensus definition of an aerodigestive patient, standardized structure, and functions of an aerodigestive program or a blueprint for research prioritization. The Delphi method was used by a multidisciplinary and multi-institutional panel of aerodigestive providers to obtain consensus on 4 broad content areas related to aerodigestive care: (1) definition of an aerodigestive patient, (2) essential construct and functions of an aerodigestive program, (3) identification of aerodigestive research priorities, and (4) evaluation and recognition of aerodigestive programs and future directions. After 3 iterations of survey, consensus was obtained by either a supermajority of 75% or stability in median ranking on 33 of 36 items. This included a standard definition of an aerodigestive patient, level of participation of specific pediatric disciplines in a program, essential components of the care cycle and functions of the program, feeding and swallowing assessment and therapy, procedural scope and volume, research priorities and outcome measures, certification, coding, and funding. We propose the first consensus definition of the aerodigestive care model with specific recommendations regarding associated personnel, infrastructure, research, and outcome measures. We hope that this may provide an initial framework to further standardize care, develop clinical guidelines, and improve outcomes for aerodigestive patients.

PURPOSE: Reflux esophagitis (ReE) and eosinophilic esophagitis (EoE) are associated with the presence of eosinophils in esophageal mucosa and are considered to be important co-morbid factors for chronic cough and asthma in adults. We hypothesize that esophageal eosinophils related to ReE and EoE are present in children with refractory asthma and chronic cough and correlate with airway eosinophilia. METHODS: We performed a retrospective analysis of medical records of children who underwent "triple endoscopy" (sleep laryngoscopy, bronchoscopy with bronchoalveolar lavage (BAL) and endobronchial biopsy (EBB), and esophagogastroduodenoscopy with esophageal biopsy (EsB)) at our Aerodigestive Center for evaluation of refractory asthma and cough. Inclusion criteriawere cough for 8 weeks or more with no response to trial of antibiotics and systemic/inhaled corticosteroids (ICS), poor control of asthma symptoms, and/or airflowlimitations and air trapping despite use ICS or ICS/long-acting beta-agonist combination. Children with known cystic fibrosis, primary ciliary dyskinesia and aspiration into airway were excluded. RESULTS: Thirty-two children (22 males) met inclusion criteria. Nineteen had refractory asthma and 13 had chronic cough. There were no significant complications recorded after procedures including EBB. Eosinophils (>1%) were present in BAL of 8 (25%) children. EBB showed eosinophils in 17 (53%) children. There were a total of 19 children with eosinophils isolated from the airway (either BAL or EBB), 4 (21%) had them in BAL alone, 8 (42%) in EBB only, and 7 (37%) in both BAL and EBB. EoE was diagnosed in 6 children (19%) and ReE in 13 (41%). EsB revealed esophageal eosinophils in 47% of children. Presence of eosinophils in EsB was related to presence of eosinophils in EBB chi² (1, N = 32), p = 0.026, but not BAL (p=0.89). CONCLUSIONS: ReE and EoE with esophageal eosinophils was present in 47% of children with refractory asthma and chronic cough. There is a significant relationship between airway and esophageal eosinophils, which becomes evident only when EBB is performed for detection of airway eosinophils. Further research is required for understanding the association of airway and esophageal eosinophilia in the development and management of refractory asthma and cough

BACKGROUND: Children with medical complexity have a high prevalence of sleep disorders. However, outpatient polysomnography to evaluate for these conditions may be difficult to perform because of lack of skilled nursing care. The aim of this study was to explore polysomnography indications in hospitalized children and assess its impact on patient care. METHODS: Data from 85 inpatient polysomnographies of 70 children hospitalized between March and December 2014 were retrospectively collected. RESULTS: Sixty percent of patients were boys with ages 6.5 +/- 6 years. Chronic respiratory failure was present in 33.8%, airway obstruction due to defects of the tracheobronchial tree or craniofacial abnormalities in 54.3%, neurological complications of the perinatal period in 22.9%, genetic syndromes and neurodegenerative disorders in 31.4%, congenital myopathies in 5.7%, metabolic diseases in 4.3% and congenital cyanotic heart defects in 4.3%. Indications for polysomnography included assessment of chronic pulmonary disease (60%), ventilator requirements (41.2%), apnea/desaturation (23.5%), and acute life-threatening events (1.2%). Abnormal results were found in 89.4%. The observed diagnosis was obstructive sleep apnea in 64.7%, signs of chronic lung disease in 34.1%, hypoventilation in 9.4%, periodic breathing in 3.5%, and periodic limb movement of sleep in 4.7%. The following interventions were performed: adjustment of ventilator parameters (45.8%), positive airway pressure initiation (24.7%), otorhinolaryngology referral (30.6%), supraglottoplasty (2.4%), tracheostomy decannulation (2.4%), and tracheostomy placement (3.5%). Nine patients had available follow-up polysomnograms, all showing improvement in sleep variables after adherence to recommended interventions. CONCLUSIONS: In patients with medical complexity, inpatient polysomnographies give invaluable information to guide immediate medical decision making and should be strongly considered if resources allow this.

We present a case of an ex-28-week, extremely low-birth-weight infant who was transferred to our institution for bronchoscopically assisted removal of an aspirated foreign body. This case presented several challenges because of the patient's extreme prematurity as well as the need for repeated tracheal extubations and reintubations during the procedure to accommodate surgical instruments in the patient's airway. We discuss the respiratory physiology, common comorbidities, and management of aspirated foreign bodies in the premature infant and emphasize the importance of clear communication in the operating room between the multidisciplinary team of physicians involved in this patient's care.

INTRODUCTION:: Distal airway secretions can be sampled by bronchoscopic bronchoalveolar lavage (B-BAL), blind protected BAL (BP-BAL) and tracheal aspirates (TA). We quantitatively compared the cultures of distal airway secretions from BP-BAL, B-BAL, and TA and assessed the efficacy of the three above methods in diagnosing bronchitis in tracheostomized children. METHOD:: Twenty children with tracheostomies underwent BP-BAL, B-BAL and TA. Samples were sent for quantitative bacterial cultures. Diagnosis of bronchitis was made based on a validated visual grading system as well as on positive quantitative culture in the BAL fluid. Diagnostic agreement between cultures obtained by the three methods and the visual grading scores was determined by kappa statistics. RESULTS:: Diagnosis of bronchitis by visual grading score had substantial agreement with BP-BAL, moderate agreement with B-BAL, and fair agreement with TA. BP-BAL had significantly lower pathogenic colonies (P<0.05) than either B-BAL or TA. CONCLUSION:: BP-BAL allows for more accurate sampling of lower airway secretions in tracheostomized children and is more accurate in the diagnosis of bronchitis in this group.