A challenging diagnosis of narcolepsy type 2 in a patient with Duane syndrome.

Duane syndrome is a form of congenital strabismus with horizontal eye movement limitation. This may present a diagnostic challenge when assessing for rapid eye movements during stage REM utilizing PSG or MSLT. We present a case of a child with Duane syndrome who presented with excessive daytime sleepiness and underwent evaluation for hypersomnia. His eye movement limitation provided a challenge in identifying stage REM. In patients with eye movement limitations or prosthetic eyes, it is necessary to look for other features of stage REM such as low chin EMG tone and EEG pattern.

Association between early childhood sleep difficulties and subsequent psychiatric illness.

STUDY OBJECTIVES: Chronic disruptions to sleep in childhood are associated with increased prevalence of psychiatric disease later in development. When sleep disruptions remit before adolescence, the increased prevalence of psychiatric disease is no longer observed, highlighting the importance of early detection and intervention. Clinicians typically rely on caregivers' reports for diagnosis and management of childhood sleep challenges. We examined whether findings on polysomnogram (PSG) can offer similar insight into childhood sleep difficulties and the risk of subsequent psychiatric illness. METHODS: A cohort was identified of 348 children ages 5 years 11 months and younger with sleep difficulties rising to the level of formal clinical workup. A retrospective review of caregiver-reported sleep concerns, PSG results, and subsequent psychiatric illness was completed. PSG findings were compared to presence of psychiatric illness later in life as well as caregivers' reported concerns. Chi-squared and Fisher's exact tests were completed to evaluate correlations and Cohen's kappa was used to evaluate agreement. RESULTS: With only a few exceptions, comparisons between clinician findings on PSG and subsequent psychiatric diagnoses were statistically nonsignificant. Similarly, the relationship between caregivers' subjective reports about sleep and clinicians' findings on PSG demonstrated only slight to fair agreement, suggesting reported concerns were not predictive of PSG results. CONCLUSIONS: Parental reports of subjective sleep concerns are indicative of different sleep pathologies compared to sleep pathologies detected on PSG. The addition of PSG to caregiver-reported data appears to have limited clinical utility in understanding sleep concerns associated with the risk of subsequent psychiatric illness in young children. CITATION: Pease E, Shekunov J, Savitz ST, et al. Association between early childhood sleep difficulties and subsequent psychiatric illness. J Clin Sleep Med. 2023;19(12):2059-2063.

Control of Breathing and Central Hypoventilation Syndromes.

Control of breathing in children varies with age and sleep state. There is overlap between central hypoventilation, autonomic dysfunction, and hypothalamic dysfunction in the rare disorders (congenital central hypoventilation syndrome and rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysregulation). Other, more common disorders that typically present in childhood also include central hypoventilation and disordered ventilatory responses.

The impact of obstructive sleep apnea screening guidelines in a population-based, midwestern cohort of children with Down Syndrome.

OBJECTIVE: /Background: The high rate of obstructive sleep apnea (OSA) in Down Syndrome (DS) is well described in the literature. The impact of the 2011 screening guidelines has not been fully evaluated. The objective of this study is to evaluate the impact of the 2011 screening guidelines on the diagnosis and treatment of obstructive sleep apnea (OSA) in a community cohort of children with Down Syndrome. PATIENTS/METHODS: This is a retrospective, observational study conducted on 85 individuals with DS born between 1995 and 2011 in a nine-county region of southeast Minnesota. The Rochester Epidemiological Project (REP) Database was used to identify these individuals. RESULTS: /Conclusions: Sixty-four percent of the patients with DS had OSA. Post guideline publication, the median age at OSA diagnosis was higher (5.9 years; p = 0.003) and polysomnography (PSG) was used more often to establish the diagnosis. Most children underwent first line therapy with adenotonsillectomy. There was a high degree of residual OSA after surgery (65%). There were trends post guideline publication towards increased PSG use and for consideration of additional therapy beyond adenotonsillectomy. The use of PSG before and after first line treatment for OSA in children with DS is needed due to the high rate of residual OSA. Unexpectedly, in our study, the age at OSA diagnosis was higher after guideline publication. Continued assessment of clinical impact and refinement of these guidelines will be of benefit to individuals with DS given the prevalence and longitudinal nature of OSA in this population.

A certified child life specialist influences the emotional response during polysomnography setup.

OBJECTIVES: To examine if the presence of a certified child life specialist (CCLS) had a positive impact on patient emotion at the time of polysomnography setup and to determine the optimal timing of CCLS intervention prior to polysomnography (PSG) in our sleep center. METHODS: We implemented a study which measured the impact of a CCLS on the emotional manifestation score (EMS) of pediatric patients (4 months-17 years, median 7 years) during PSG setup. CCLS intervention was either at the time of sleep medicine consultation (daytime) or during PSG setup (evening). We used Emotional Manifestations Scores (EMS) as well as patient/caregiver satisfaction data to measure the impact of a CCLS and inform decision-making regarding ongoing employment of a CCLS in our sleep lab. RESULTS: High EMS scores were noted during PSG setup in all groups indicating the emotional distress of children undergoing PSG. The EMS improved more when CCLS was present at the time of PSG setup. Statistically significant improvements occurred in level of cooperation, pain/discomfort, and child coping. Based on the results of the study, we hired a CCLS to work in our sleep center at the time of PSG setup 2 evenings per week. CONCLUSIONS: PSG is emotionally stressful for pediatric patients as seen on EMS. A CCLS present in the evening at our sleep lab led to an improvement in EMS in children being prepared for PSG set-up. After implementation of a CCLS two nights per week in our sleep lab, parents/caregiver satisfaction scores were higher on nights a CCLS was present at setup.

Enhancing the patient and family experience during pediatric sleep studies.

STUDY OBJECTIVES: Pediatric polysomnography can result in suboptimal patient and provider (physician and advanced practice provider) experiences. We embarked on a project aimed at increasing the proportion of maximal satisfaction survey scores by a minimum of 10% in 1 year without adding personnel or major expenses. METHODS: We used a Six Sigma framework, define, measure, analyze, improve, and control (DMAIC), to conduct our analysis. For measurement, we designed a project-specific survey that was given to caregivers of children who underwent PSG in February 2018 and repeated the survey after interventions in February 2019. Lean and Six Sigma quality improvement tools were used to define important processes that influence patient satisfaction, including: supplier, input, process, output, customer, and requirements (SIPOC-R); journey mapping; 1-2-4-All brainstorming; and views solicited from our center's Patient and Family Advisory Council. We analyzed the relationships between identified processes and outcomes using usual descriptive statistics. We prioritized interventions using a Kano model and a quality function deployment (QFD) technique to rank priorities for interventions. Multiple opportunities to improve patient and family satisfaction before, during, and after a pediatric polysomnography were identified. Many were simple, one-step interventions and were implemented simultaneously. For those that required substantial training and/or scheduling changes, pilots were performed and plan, do, study, act (PDSA) cycles were used to check effectiveness. RESULTS: After implementation, top box scores rose 20%, from 51% (n = 47) in 2018 to 71% (n = 50) in 2019. CONCLUSIONS: Various quality improvement techniques employed in business, engineering, and manufacturing were used to identify and address areas of improvement in the pediatric polysomnography experience.

Longitudinal Assessment of Resident Performance Using Entrustable Professional Activities.

Importance: Entrustable professional activities (EPAs) are an emerging workplace-based, patient-oriented assessment approach with limited empirical evidence. Objective: To measure the development of pediatric trainees' clinical skills over time using EPA-based assessment data. Design, Setting, and Participants: Prospective cohort study of categorical pediatric residents over 3 academic years (2015-2016, 2016-2017, and 2017-2018) assessed on 17 American Board of Pediatrics EPAs. Residents in training at 23 pediatric residency programs in the Association of Pediatric Program Directors Longitudinal Educational Assessment Research Network were included. Assessment was conducted by clinical competency committee members, who made summative assessment decisions regarding levels of supervision required for each resident and each EPA. Data were collected from May 2016 to November 2018 and analyzed from November to December 2018. Interventions: Longitudinal, prospective assessment using EPAs. Main Outcomes and Measures: Trajectories of supervision levels by EPA during residency training and how often graduating residents were deemed ready for unsupervised practice in each EPA. Results: Across the 5 data collection cycles, 1987 residents from all 3 postgraduate years in 23 residency programs were assigned 25 503 supervision level reports for the 17 general pediatrics EPAs. The 4 EPAs that required the most supervision across training were EPA 14 (quality improvement) on the 5-level scale (estimated mean level at graduation, 3.7; 95% CI, 3.6-3.7) and EPAs 8 (transition to adult care; mean, 7.0; 95% CI, 7.0-7.1), 9 (behavioral and mental health; mean, 6.6; 95% CI, 6.5-6.6), and 10 (resuscitate and stabilize; mean, 6.9; 95% CI, 6.8-7.0) on the expanded 5-level scale. At the time of graduation (36 months), the percentage of trainees who were rated at a supervision level corresponding to "unsupervised practice" varied by EPA from 53% to 98%. If performance standards were set to align with 90% of trainees achieving the level of unsupervised practice, this standard would be met for only 8 of the 17 EPAs (although 89% met this standard for EPA 17, performing the common procedures of the general pediatrician). Conclusions and Relevance: This study presents initial evidence for empirically derived practice readiness and sets the stage for identifying curricular gaps that contribute to discrepancy between observed practice readiness and standards needed to produce physicians able to meet the health needs of the patient populations they serve. Future work should compare these findings with postgraduation outcomes data as a means of seeking validity evidence.

Trans-nasal flexible bronchoscopy in wheezing children: Diagnostic yield, impact on therapy, and prevalence of laryngeal cleft.

AIM: Persistent or recurrent wheezing is a common indication for flexible bronchoscopy, as anatomic and infectious or inflammatory changes are highly prevalent. We sought to evaluate the prevalence of anatomic, infectious, and inflammatory disease in a cohort of children undergoing flexible bronchoscopy for wheezing or poorly controlled asthma. METHODS: We retrospectively reviewed all children <18 years old who underwent flexible bronchoscopy at our center from October 29, 2012-December 31, 2016 for the primary or secondary indication of wheezing (persistent, frequently recurring, or atypical) or poorly controlled asthma. RESULTS: A total of 101 procedures were identified in 94 patients, aged 3 months to 18 years. Potential anatomic causes for wheezing identified in 45.7% of patients and inflammatory changes in 49.5% of procedures. This included the identification of a laryngeal cleft in 17% for which half required medical or surgical management. Tracheobronchomalacia was the most commonly identified anatomic lesion. Thirty children from this cohort had poorly controlled asthma. Among this subgroup, 54% had increased neutrophils on BAL and 30% had an anatomic contributor to wheezing, including one with a laryngeal cleft. Based on findings from flexible bronchoscopy, management changes made in 63.8% of patients. This included medication changes in 54 and surgical intervention in 9. DISCUSSION: We conclude that transnasal flexible bronchoscopy has high yield in children with recurrent, persistent, or atypical wheezing and those with poorly controlled asthma. Laryngeal cleft has a reasonably high prevalence that warrants specific evaluation in this population.

American Academy of Sleep Medicine Position Paper for the Use of a Home Sleep Apnea Test for the Diagnosis of OSA in Children.

INTRODUCTION: The purpose of this position paper is to establish the American Academy of Sleep Medicine's (AASM) position on the use of a home sleep apnea test (HSAT) for the diagnosis of obstructive sleep apnea (OSA) in children (birth to 18 years of age). METHODS: The AASM commissioned a task force of 8 experts in sleep medicine to review the available literature on the use of an HSAT to diagnose OSA in children. The task force developed the position statement based on a thorough review of these studies and their clinical expertise. The AASM Board of Directors approved the final position statement. POSITION STATEMENT: Use of a home sleep apnea test is not recommended for the diagnosis of obstructive sleep apnea in children. The ultimate judgment regarding propriety of any specific care must be made by the clinician, in light of the individual circumstances presented by the patient, available diagnostic tools, accessible treatment options, and resources.

Association of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*.

OBJECTIVES: The cystic fibrosis transmembrane conductance regulator regulates fluid balance in alveolar epithelial cells and appears to modulate the inflammatory response. To determine whether more severe lung injury in children who develop community-acquired pneumonia is associated with variations known to affect function in the gene coding for cystic fibrosis transmembrane conductance regulator. DESIGN: A prospective cohort genetic association study of lung injury in children with community-acquired pneumonia. SETTING: Three major tertiary care children's hospitals. SUBJECTS: Caucasian and African American children with community-acquired pneumonia either evaluated in the emergency department or admitted to the hospital. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Caucasian and African American children with pneumonia were genotyped for the most common variants reported to affect cystic fibrosis transmembrane conductance regulator function, the p.508del mutation, the (TG)mTn variable repeat region, and the M470V polymorphism in the cystic fibrosis transmembrane conductance regulator gene. Genotypes and haplotypes were determined, and the association of high-risk alleles or high-risk haplotypes (defined as the presence of at least one variant known to decrease the level of functional cystic fibrosis transmembrane conductance regulator) with the need for mechanical ventilation or the development of acute lung injury was evaluated. Forty-two children in the Caucasian cohort (n = 304) required mechanical ventilation; 32 developed acute lung injury. Forty-three children in the African American cohort (n = 474) required mechanical ventilation; 29 developed acute lung injury. In African American children, high-risk (TG)mTn alleles known to result in decreased levels of functional cystic fibrosis transmembrane conductance regulator were associated with the need for mechanical ventilation (p = .0013) and the development of acute lung injury (p = .0061). Multivariable analysis demonstrated that high-risk (TG)mTn alleles were independently associated with mechanical ventilation (odds ratios = 3.19; 95% confidence interval, 1.63-6.26) and acute lung injury (odds ratios = 3.36; 95% confidence interval, 1.50-7.53) in African American children. CONCLUSION: Genetic variation in cystic fibrosis transmembrane conductance regulator is associated with acute lung injury in African American children with community-acquired pneumonia.

Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant.

Spinal muscular atrophy with respiratory distress (SMARD1) is a rare autosomal recessive disease that is caused by mutations in the gene encoding for immunoglobulin µ-binding protein 2. Unlike the relatively more common spinal muscular atrophy, patients with SMARD1 have respiratory distress prior to manifestation of distal muscle weakness making the diagnosis a challenge. Because respiratory distress is a hallmark feature of this disease, pediatric pulmonologists should recognize its features, and consider it as a diagnostic entity.