Robin sequence without cleft palate: Genetic diagnoses and management implications.

Robin sequence (RS), the triad of micrognathia, glossoptosis, and airway obstruction, is a major cause of respiratory distress and feeding difficulties in neonates. Robin sequence can be associated with other medical or developmental comorbidities in ~50% of cases ("syndromic" RS). As well, RS is variably associated with cleft palate (CP). Previous studies have not investigated differences in clinical characteristics of children with RS based on presence or absence of CP. We retrospectively reviewed 175 children with RS and compared genetic diagnoses, medical and developmental comorbidities, severity of airway obstruction, and feeding outcomes between those with and without CP. Strikingly, 45 of 45 (100%) children with RS without CP were classified as syndromic due to presence of comorbidities unrelated to RS, while 83 of 130 (64%) children with RS with CP were classified as syndromic. Among 128 children with syndromic RS, there were no differences in severity of airway obstruction, surgical intervention rate or type, or feeding outcome at 12 months based on CP status. Our findings support the conclusion that the pathogenesis of RS without CP is distinct from RS with CP and more likely to cause additional medical or developmental problems. Alternatively, children with RS without CP and without additional anomalies present may be under recognized.

Technology-Enabled Health Care Collaboration in Pediatric Chronic Illness: Pre-Post Interventional Study for Feasibility, Acceptability, and Clinical Impact of an Electronic Health Record-Linked Platform for Patient-Clinician Partnership.

BACKGROUND: Mobile health (mHealth) technology has the potential to support the Chronic Care Model's vision of closed feedback loops and patient-clinician partnerships. OBJECTIVE: This study aims to evaluate the feasibility, acceptability, and short-term impact of an electronic health record-linked mHealth platform (Orchestra) supporting patient and clinician collaboration through real-time, bidirectional data sharing. METHODS: We conducted a 6-month prospective, pre-post, proof-of-concept study of Orchestra among patients and parents in the Cincinnati Children's Hospital inflammatory bowel disease (IBD) and cystic fibrosis (CF) clinics. Participants and clinicians used Orchestra during and between visits to complete and view patient-reported outcome (PRO) measures and previsit plans. Surveys completed at baseline and at 3- and 6-month follow-up visits plus data from the platform were used to assess outcomes including PRO completion rates, weekly platform use, disease self-efficacy, and impact on care. Analyses included descriptive statistics; pre-post comparisons; Pearson correlations; and, if applicable, effect sizes. RESULTS: We enrolled 92 participants (CF: n=52 and IBD: n=40), and 73% (67/92) completed the study. Average PRO completion was 61%, and average weekly platform use was 80%. Participants reported improvement in self-efficacy from baseline to 6 months (7.90 to 8.44; P=.006). At 6 months, most participants reported that the platform was useful (36/40, 90%) and had a positive impact on their care, including improved visit quality (33/40, 83%), visit collaboration (35/40, 88%), and visit preparation (31/40, 78%). PRO completion was positively associated with multiple indicators of care impact at 3 and 6 months. CONCLUSIONS: Use of an mHealth tool to support closed feedback loops through real-time data sharing and patient-clinician collaboration is feasible and shows indications of acceptability and promise as a strategy for improving pediatric chronic illness management.

Total pancreatectomy with islet autotransplantation in a pancreatic-sufficient cystic fibrosis patient.

For children with Cystic Fibrosis (CF) suffering from acute recurrent pancreatitis (ARP), abdominal pain can be severe, difficult to treat, impair their quality of life, affect participation at school, and can lead to chronic opioid dependence. Total pancreatectomy with islet autotransplantation (TPIAT) is an uncommon treatment that is reserved for refractory cases of ARP. We present a case of a 4 year old female with pancreatic-sufficient CF, refractory ARP, frequent hospital admissions for abdominal pain, and continued growth failure despite gastrostomy tube and parenteral nutrition. One year after successful TPIAT, the patient is insulin-independent, growing well, and has not been re-hospitalized for abdominal pain. To our knowledge, this is the youngest patient with CF to undergo TPIAT for debilitating ARP. With CFTR modulators restoring some pancreatic function, CF clinicians should have increased vigilance for the development of ARP.

Body Sanctification and Sleep in Adolescents with Cystic Fibrosis: A Pilot Study.

Imbuing one's body with divine significance is associated with health-protective behaviors. The purpose of this study was to determine whether adolescents with a life-shortening, chronic disease (cystic fibrosis) who sanctified their bodies also received adequate sleep. Data from Daily Phone Diaries and questionnaire replies from 45 adolescents with cystic fibrosis (ages 11-19 years) were analyzed. A significant relationship between body sanctification and sleep was found, with between-gender differences. Body sanctification is an understudied construct which is associated with healthy behaviors.

Retrospective Study of Obesity in Children with Down Syndrome.

OBJECTIVES: To assess whether children with Down syndrome in the US are at an increased risk for obesity, we determined the obesity prevalence and analyzed obesity development throughout childhood in a cohort of children with Down syndrome. In addition, we analyzed a comorbidity that is associated with Down syndrome and obesity, obstructive sleep apnea syndrome (OSAS). STUDY DESIGN: This study was a retrospective chart review that evaluated 303 children ages 2 through 18 years with a diagnosis of Down syndrome. All children were patients at Cincinnati Children's Hospital Medical Center with multiple height and weight measurements. To determine obesity burden, the rate of obesity was compared with a local control cohort using contingency tables. Change in obesity rate through time was determined with mixed models. Association of obesity with OSAS was determined with contingency tables. RESULTS: We evaluated 303 individuals, 47.8% of whom were obese (body mass index ≥95th percentile for age and sex). This was significantly higher than the general pediatric population, which had a 12.1% obesity rate (P < .0001). Body mass index z-scores did not change markedly over time (P = .40). The majority of children with Down syndrome also had OSAS (74.0% of the 177 children who had polysomnography studies). However, OSAS risk was elevated in obese children (risk ratio = 2.4, P = .0015). CONCLUSIONS: Our results indicate that children with Down syndrome are at a substantial risk for obesity and OSAS. These findings support the need for more aggressive weight management in early childhood and throughout the lifespan.

Adherence Determinants in Cystic Fibrosis: Cluster Analysis of Parental Psychosocial, Religious, and/or Spiritual Factors.

RATIONALE: Cystic fibrosis is a progressive disease requiring a complex, time-consuming treatment regimen. Nonadherence may contribute to an acceleration of the disease process. Spirituality influences some parental healthcare behaviors and medical decision-making. OBJECTIVES: We hypothesized that parents of children with cystic fibrosis, when classified into groups based on adherence rates, would share certain psychosocial and religious and/or spiritual variables distinguishing them from other adherence groups. METHODS: We conducted a multisite, prospective, observational study focused on parents of children younger than 13 years old at two cystic fibrosis center sites (Site 1, n= 83; Site 2, n = 59). Religious and/or spiritual constructs, depression, and marital adjustment were measured by using previously validated questionnaires. Determinants of adherence included parental attitude toward treatment, perceived behavioral norms, motivation, and self-efficacy. Adherence patterns were measured with the Daily Phone Diary, a validated instrument used to collect adherence data. Cluster analysis identified discrete adherence patterns, including parents' completion of more treatments than prescribed. MEASUREMENTS AND MAIN RESULTS: For airway clearance therapy, four adherence groups were identified: median adherence rates of 23%, 52%, 77%, and 120%. These four groups differed significantly for parental depression, sanctification of their child's body, and self-efficacy. Three adherence groups were identified for nebulized medications: median adherence rates of 35%, 82%, and 130%. These three groups differed significantly for sanctification of their child's body and self-efficacy. CONCLUSIONS: Our results indicated that parents in each group shared psychosocial and religious and/or spiritual factors that differentiated them. Therefore, conversations about adherence likely should be tailored to baseline adherence patterns. Development of efficacious religious and/or spiritual interventions that promote adherence by caregivers of children with cystic fibrosis may be useful.

The impact of transforming healthcare delivery on cystic fibrosis outcomes: a decade of quality improvement at Cincinnati Children's Hospital.

BACKGROUND: In 2001, Cincinnati Children's Hospital embarked on a journey to improve healthcare delivery to patients with cystic fibrosis (CF). Data from the Cystic Fibrosis Foundation National Patient Registry revealed our below-average clinical outcomes, prompting us to initiate improvement interventions. OBJECTIVE: To improve clinical outcomes for patients with CF through a comprehensive quality-improvement approach directed at increasing patient centredness and improving healthcare delivery. INTERVENTIONS: In 2001, we shared our below-average outcomes with patients, families and care providers. We instituted a quality-improvement steering committee with parental and hospital leadership, and our data-management support was restructured to provide real-time clinical data to monitor our progress. In 2002, our weekly chart conference changed to a prospective planning session and individualised daily schedules were created for inpatients. In 2003, an influenza vaccination campaign was initiated and our infection-control practices were redesigned. In 2005, best-practice guidelines were developed for airway-clearance therapy. In 2007, evidence-based clinical algorithms were designed and implemented and key care-team members were added. MEASUREMENTS: Primary outcome measures were median forced expiratory volume in 1 s per cent predicted (age range 6-17 years) and median body mass index percentile (age range 2-20 years). RESULTS: From 2000 to 2010, median forced expiratory volume in 1 s increased from 81.7% to 100.1% predicted and median body mass index increased from the 35th to the 55th centile. DISCUSSION: By focusing on specific outcomes, empowering families and patients, effectively using data, and standardising care processes, we transformed the culture and delivery of care for our patients with CF and learned valuable lessons potentially translatable to other chronic-care providers.

Obstructive lung disease is common in children with syndromic and congenital scoliosis: a preliminary study.

BACKGROUND: It is well known that restrictive lung disease (RLD) is associated with scoliosis. This study identifies that obstructive lung disease (OLD) is associated with syndromic scoliosis and congenital scoliosis. METHODS: We searched a local database for patients with scoliosis who underwent a pulmonary function testing (PFT) from 2004 to 2009. All patients with congenital scoliosis or syndromic thoracolumbar scoliosis with a Cobb angle of ≥40 degrees and acceptable and repeatable PFT testing were included in the study. OLD was defined as an forced expiratory volume in the first second/forced vital capacity ratio below 95% confidence interval. Bronchoscopy videos and computed tomography scans or magnetic resonance images were reviewed to identify anatomic causes of lower airway disease. RESULTS: A total of 18 patients met the criteria for inclusion. The median age at diagnosis was 11.3 years. The median primary Cobb angle was 60 degrees. The prevalence of OLD was 33% and RLD was 57%. The 6 children with OLD underwent preoperative bronchoscopy and chest computed tomography or magnetic resonance imaging to identify anatomic causes of lower airway obstruction. The 4 children with OLD and right-sided major thoracic curves had compression of the right mainstem bronchus between the spine (posterior) and the right pulmonary artery (anterior). The 2 children with OLD and left-sided major thoracic curves had compression of the left mainstem bronchus between the spine (posterior) and the descending aorta (anterior) or the left atrium (anterior). CONCLUSIONS: In our study, the prevalence of OLD in children with congenital scoliosis or syndromic scoliosis was 33%, which was elevated when compared with the population prevalence of 2% to 5%. Mainstem airway compression from spine rotation was discovered to be the potential mechanism of disease. LEVEL OF EVIDENCE: Level IV, prognostic study investigating the effect of a patient characteristic on the outcome of disease.

Neonates with tongue-based airway obstruction: a systematic review.

OBJECTIVE: In this systematic review, the authors summarize the current evidence in the literature regarding diagnosis, treatment, and long-term outcomes in neonates with tongue-based airway obstruction (TBAO) and assess the level of evidence of included studies. DATA SOURCES: The terms Pierre Robin syndrome/sequence, micrognathia, retrognathia, and cleft palate were combined with airway obstruction, treatment, tongue-lip plication, and osteogenesis distraction to perform an Ovid literature search, yielding 341 references. The authors excluded references containing patients with isolated choanal/nasal obstruction, patients older than 12 months, and expert opinion papers, yielding 126 articles. REVIEW METHODS: The authors searched 3 electronic databases and reference lists of existing reviews from 1980 to October 2010 for articles pertaining to the diagnosis, treatment, and outcomes of TBAO. Reviewers assigned a level of evidence score based on Oxford's Centre for Evidence Based Medicine scoring system and recorded relevant information. RESULTS: Most studies were case studies and single-center findings. The lack of standardization of diagnostic and treatment protocols and the heterogeneity of cohorts both within and between studies precluded a meta-analysis. There was little evidence beyond expert opinion and single-center evaluation regarding diagnosis, treatment, and long-term outcomes of neonates with TBAO. CONCLUSIONS: The variability in the phenotype of the cohorts studied and the absence of standardized indications for intervention preclude deriving any definitive conclusions regarding diagnostic tools to evaluate this patient population, treatment choices, or long-term outcomes. A coordinated multicenter study with a standardized diagnostic and treatment algorithm is recommended to develop evidence for the diagnosis and treatment of neonates with TBAO.

Comparison of lingual tonsil size as depicted on MR imaging between children with obstructive sleep apnea despite previous tonsillectomy and adenoidectomy and normal controls.

BACKGROUND: Cine MRI has become a useful tool in the evaluation of patients with persistent obstructive sleep apnea (OSA) despite previous surgical intervention and in patients with underlying conditions that render them susceptible to multilevel airway obstruction. Findings on cine MRI studies have also increased our understanding of the mechanisms and anatomic causes of OSA in children. OBJECTIVE: To compare lingual tonsil size between children with OSA and a group of normal controls. In addition, a subanalysis was made of the group of children with OSA comparing lingual tonsils between children with and without underlying Down syndrome. MATERIALS AND METHODS: Children with persistent OSA despite previous palatine tonsillectomy and adenoidectomy and controls without OSA underwent MR imaging with sagittal fast spin echo inversion-recovery images, and lingual tonsils were categorized as nonperceptible at imaging or present and measurable. When present, lingual tonsils were measured in the maximum anterior-posterior diameter. If lingual tonsils were greater than 10 mm in diameter and abutting both the posterior border of the tongue and the posterior pharyngeal wall, they were considered markedly enlarged. RESULTS: There were statistically significant differences between the OSA and control groups for the presence vs. nonvisualization of lingual tonsils (OSA 33% vs. control 0%, P=0.0001) and mean diameter of the lingual tonsils (OSA 9.50 mm vs. control 0.0 mm, P=0.00001). Within the OSA group, there were statistically significant differences between children with and without Down syndrome for the three lingual tonsil width categories (P=0.0070) and occurrence of markedly enlarged lingual tonsils (with Down syndrome 35% vs. without Down syndrome 3%, P=0.0035). CONCLUSIONS: Enlargement of the lingual tonsils is relatively common in children with persistent obstructive sleep apnea after palatine tonsillectomy and adenoidectomy. This is particularly true in patients with Down syndrome.

Obstructive sleep apnea: MR imaging volume segmentation analysis.

PURPOSE: To retrospectively determine airway wall motion with volume segmentation of transverse cine magnetic resonance (MR) images in children with obstructive sleep apnea (OSA). MATERIALS AND METHODS: Transverse fast gradient-echo cine MR images of the hypopharynx were obtained at 1.5 T in 31 children with OSA (eight girls, 23 boys; mean age, 11.3 years) and 21 children free of airway symptoms who underwent MR imaging for other clinical indications (11 girls, 10 boys; mean age, 3.5 years). Volume segmentation with a k-means clustering algorithm was applied to transverse cine MR images to quantify airway volumes at each time. Airway wall motion for each child was described with standard deviation and range. Coefficient of variance and normalized range, which are independent of airway size, were used to compare groups (Kruskal-Wallis test). RESULTS: Plots of airway volume over time demonstrated large fluctuations during respiration in children with OSA and minimal fluctuations in controls; findings were consistent with airway distention and airway collapse in OSA. Average airway transverse volume was larger in the group with OSA than in the control group (OSA group, 2.52 mL; control group, 0.936 mL; P <.001). Mean standard deviation (OSA group, 0.840 mL; control group, 0.17 mL; P <.001) and mean range of airway cross section (OSA group, 3.552 mL; control group, 0.864 mL; P <.001) were larger in the group with OSA. Coefficient of variance (OSA group, 0.32; control group, 0.17; P <.001) and normalized range (OSA group, 1.42; control group, 0.96; P <.001) indicate statistically significant difference in airway dynamics in children with OSA. CONCLUSION: Volume segmentation of transverse cine MR images of the hypopharynx aids in quantification of increased airway wall motion in children with OSA. Transverse MR imaging demonstrates both airway distention and collapse in children with OSA.

Causes of persistent obstructive sleep apnea despite previous tonsillectomy and adenoidectomy in children with down syndrome as depicted on static and dynamic cine MRI.

OBJECTIVE: Our purpose was to evaluate the causes of persistent obstructive sleep apnea despite previous tonsillectomy and adenoidectomy in children with Down syndrome as depicted on cine MRI. MATERIALS AND METHODS: Cine MRI studies performed to evaluate persistent obstructive sleep apnea despite previous tonsillectomy and adenoidectomy were reviewed. MRI was performed under sedation and included cine MR images (fast gradient-echo) obtained in the midline sagittal plane and in the axial plane at the base of the tongue and T1-weighted spin-echo and fast spin-echo inversion recovery images in the axial and sagittal planes. Imaging parameters reviewed included static and dynamic diagnoses made, frequency of recurrence and diameter of tonsillar tissue, and tongue morphology. RESULTS: Twenty-seven patients were identified (mean age, 9.9 years). Diagnoses included glossoptosis in 17 patients (63%), hypopharyngeal collapse in six (22%), recurrent and enlarged adenoid tonsils in 17 (63%), enlarged lingual tonsils in eight (30%), and macroglossia in 20 (74%). Of the 20 patients with macroglossia, 11 (55%) had absence of the normal median sulcus and 12 (60%) had evidence of fatty infiltration of the tongue musculature. CONCLUSION: Persistent obstructive sleep apnea in children with Down syndrome who have undergone previous adenoidectomy and tonsillectomy has multiple causes. The most common causes include macroglossia, glossoptosis, recurrent enlargement of the adenoid tonsils, and enlarged lingual tonsils.

Upper airway motion depicted at cine MR imaging performed during sleep: comparison between young Patients with and those without obstructive sleep apnea.

PURPOSE: To compare the patterns of dynamic airway motion depicted on cine magnetic resonance (MR) images obtained during sleep between young patients with and those without obstructive sleep apnea (OSA). MATERIALS AND METHODS: Fast gradient-echo sequences were performed in the sagittal midline by using a 1.5-T unit to create cine MR images. Cine MR images obtained during sleep in 16 young patients with OSA were compared with those obtained in 16 young patients with no airway symptoms of airway disease. The nasopharynx, oropharynx, and hypopharynx were characterized in terms of airway motion as static patent (SP), dynamic patent, intermittent collapsed (IC), or static collapsed (SC); and the maximal diameter and greatest change in diameter (in millimeters) of these airways were calculated. Adenoid tonsil size and mouth position (ie, opened or closed) were determined. Differences in the frequency of MR imaging parameters in the different anatomic regions were evaluated by using Fisher exact, chi 2, and sample t tests. RESULTS: There were statistically significant differences in the following parameters between the two groups: nasopharynx SP (P <.001) and IC (P <.001); hypopharynx SP (P <.001) and IC (P <.001); and mean change in airway diameter of the nasopharynx (P <.001) and hypopharynx (P <.001). The mean adenoid tonsil size in the patients with OSA was larger (P =.006). CONCLUSION: There are significant differences in the patterns of dynamic airway motion between young patients with and those without OSA.

Relapsed non-Hodgkin's lymphoma diagnosed by flexible bronchoscopy.

Pulmonary relapse of non-Hodgkin's lymphoma (NHL) occurred in a 10-year-old girl who presented with cough, blood-tinged sputum, and chest tightness. The diagnosis of Ki-1 (CD30) anaplastic large-cell lymphoma was established using bronchoalveolar lavage (BAL) and transbronchial biopsy (TBB). These procedures demonstrated malignant cells that stained positive for CD30 and had the t(2;5) translocation, thereby avoiding the need for an open lung biopsy.