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.

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.

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.

Sleep disturbance and sleep insufficiency in primary caregivers and their children with cystic fibrosis.

BACKGROUND: Chronically ill children and their parents are at risk for sleep disorders and associated morbidity. Sleep disturbance prevalence and the relationships between parent and child sleep among children with CF are not well defined. Clarifying the presence and impact of sleep disturbances among pediatric CF patients and their parents could lead to improved health in this population. METHODS: Cross-sectional study assessing parent-reported sleep in ninety-one CF patients (mean age 8.8 years; 53.8% female) and their primary caregivers. Sleep sufficiency determined using American Academy of Sleep Medicine guidelines; correlation coefficients computed for sleep problem domains; stepwise multiple linear regression determined predictive models for sleep duration. RESULTS: Parents reported concerns about their own sleep and that of their children. Night waking and daytime sleepiness were most common in parents; prolonged sleep latency was most common for children. Most parents and children had inadequate sleep duration. School-age children had the highest frequencies of overall sleep concerns and inadequate sleep. Most parent and child sleep problem domains were significantly associated, with large effects for similar parent and child problems. Stepwise multiple linear regression demonstrated that CF caregiver/patient sleep duration was significantly predicted by insomnia symptoms. CONCLUSIONS: Many CF children and their parents experience sleep difficulties including inadequate sleep duration, with presence of sleep problems in many families whose children with CF had normal lung function. These data suggest that sleep health should be a CF Care Model component and should be a health care focus for families of children with other chronic illness.

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.

Clinical outcomes after shared decision-making tools with families of children with obstructive sleep apnea without tonsillar hypertrophy.

OBJECTIVES: To determine if shared decision-making tools (SDMTs) improve clinical outcomes for these children. Shared decision making (SDM) is a collaborative process in which patients and clinicians jointly establish treatment plans that integrate clinical evidence and patient values/preferences. We previously reported less decisional conflict using a SDMT for families of children with obstructive sleep apnea (OSA) without tonsillar hypertrophyl; however, the clinical impact of this finding is unknown. METHODS: Prospective single-blind randomized controlled trial for consecutive patients referred to a multidisciplinary upper airway center. The study group used a SDMT, whereas the control group did not; all were followed until their next appointment and polysomnogram. RESULTS: We assessed 50 families (24 study, 26 controls); mean age of patients was 8.8 (95% confidence interval 6.9-10.6) years, and 44% were female. After their initial visit, there was agreement between families and providers on the best treatment option for 22 of 24 (91.7%) study patients and 12 of 26 (46.2%) controls (P < 0.001). Before the first follow-up, four control families (15.4%) modified their treatment plan, whereas none of the study families did so (P = 0.04). Continuous positive airway pressure (CPAP) compliance was 27% (3 of 11) for controls and 57% (5 of 8) for study patients (P = 0.11). The median obstructive apnea-hypopnea index significantly improved in study patients from 13.4 (range, 20.0-57.2) to 3.5 (range 0.4-45.5, P = 0.01] events per hour, but not in controls, with 9.4 (range, 0.9-76.2) to 4.9 (range, 0-116, P = 0.10) events per hour. CONCLUSION: Families of children with OSA without tonsillar hypertrophy who were counseled regarding treatment options using SMDTs were more likely to undergo agreed upon treatment and had higher CPAP compliance. LEVEL OF EVIDENCE: 1b. Laryngoscope, 129:2646-2651, 2019.

Improving Clinical Outcomes and Quality of Life with Massage Therapy in Youth and Young Adults with Cystic Fibrosis: a Pilot Study.

BACKGROUND: Cystic Fibrosis (CF) is an autosomal recessive disorder of exocrine glands characterized by abnormal production of thick mucus, primarily in bronchi of the lungs. Individuals experience recurrent respiratory infections, increased work of breathing, cough and musculoskeletal changes with pain. Previous research found that massage therapy (MT) decreased pain, muscle tightness, and anxiety in individuals with CF, but did not use valid/reliable measurements of quality of life (QOL). PURPOSE: To evaluate the effects of MT on QOL and clinical outcomes in individuals 8 to 21 years old with CF. SETTING: A 622-bed nonprofit pediatric hospital in Ohio in the United States. PARTICIPANTS: Convenience sample of 24 patients with CF; 12 randomly assigned to treatment and control groups, respectively. RESEARCH DESIGN AND INTERVENTION: Prospective two-group controlled pre/post pilot study using deep tissue myofascial trigger point massage over 10 to 12 weeks. MEASUREMENTS: Pediatric Quality of Life Inventory (Peds QL 4.0); Cystic Fibrosis Questionnaire-Revised (CFQ-R); numeric rating scales (NRS) for pain, muscle tightness, ease of breathing, relaxation; pulmonary function (PFT); single breath count; thoracic excursion (TE). RESULTS: All participants were Caucasian; mean age 15.7 (SD = 3.5) years; 16 (66.6%) female. No significant differences were found in terms of age, gender, baseline pain between MT and control groups. At the final visit, compared to the control group, the children in MT group showed statistically significantly reduced muscle tightness (p = .048) with a large effect size (ω2 =0.163) and marginally statistically significantly higher levels of relaxation (p = .052), less pain (p = .076), and improved upper TE (p = .078) and lower TE (p = .056) scores with large and moderate effect sizes (ω2 = 0.156, ω2 = 0.095, ω2 = 0.083, and ω2 = 0.073). No statistically significant differences in children's and caregivers' QOL scores between the two groups were found. CONCLUSIONS: Massage therapy was found to significantly reduce muscle tightness, marginally significantly help pain, relaxation, and thoracic excursion in participants with CF.

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.

Relationship between exercise capacity and glucose tolerance in cystic fibrosis.

BACKGROUND: Improved exercise capacity (EC) and normal glucose tolerance (NGT) are independently associated with favorable outcomes in CF, however, little information on this relationship exists in patients with CF. METHODS: Cardiopulmonary exercise tests, oral glucose tolerance tests (OGTT), and HbA1c values measured within a 12-month period were evaluated on 83 pediatric patients diagnosed with CF. Patients were categorized as having NGT, abnormal glucose tolerance (AGT), or CF-related diabetes (CFRD). RESULTS: EC decreased as severity of glucose intolerance increased across NGT, AGT, and CFRD groups (P = 0.02). Compared to patients with NGT, patients with CFRD had lower peak VO2 mL/kg/min (33.0 ± 7.3 vs 41.3 ± 9.4, P = 0.01), lower VO2 % (81 ± 20 vs 93 ± 17, P = 0.03), and higher HbA1c (6.9 ± 1.7 vs 5.4 ± 0.4, P < 0.01). There was a positive association with age and FEV1 % with EC in the 17 patients with CFRD. In the 66 patients without diabetes, peak EC was positively associated with FEV1 % and negatively associated with age, fasting insulin, and insulin 120 min. After accounting for age and FEV1 %, multivariate analyses indicated that insulin and glucose values at 120 min predicted EC. CONCLUSIONS: These data provide evidence that poor glucose tolerance is associated with lower EC in pediatric patients with CF. There was a significant relationship between glucose and insulin values obtained by OGTT with EC in a sample of non-diabetic patients with preserved lung function. Future studies are warranted to confirm these findings and investigate the potential role of exercise in the management or prevention of CFRD.