Impact of Spina Bifida on Sleep Quality: Current Insights.

Spina bifida (SB) is one of the most common birth defects in children. The care for patients with SB continues to evolve, and there has been notable improvement in survival outcomes, degree of disability and quality of life for these children. However, patients with SB continue to remain at higher risk for sleep-related breathing disorders (SRBD), unexplained sudden death, and potential alterations in their sleep chronotype. Previous studies report on abnormalities in the spinal cord, brainstem function, and dysfunction of upper airway maintenance as the likely mechanisms behind SRBD that is commonly seen in SB. Most studies looking at prevalence of SRBD in SB have been retrospective studies. A recent prospective study identified a prevalence as high as 42% when a polysomnography (PSG) was completed on all patients regardless of symptomatology. Treatment options vary depending on the type and severity of SRBD and can range widely. Despite advances in care for patients with SB and SRBD, a subset of these patients with myelomeningocele (MMC) continue to experience sudden unexplained death. Studies continue to evaluate ways to stratify which of these patients may be at higher risk of this devastating outcome. Given that SRBD is potentially treatable, early assessment and intervention could become an integral part of a multidisciplinary treatment strategy to optimize long-term medical and neurodevelopmental outcomes for this patient population. By understanding the impact that SB may have on a patient's sleep quality, their biological chronotype and their potential of developing SRBD, a provider may help to optimize the care a patient with SB receives from birth into adulthood.

Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.

Background: Some infants undergoing newborn screening (NBS) tests have inconclusive sweat chloride test (SCT) results that lead to the designation of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis/CFTR-related metabolic syndrome (CFSPID/CRMS). Some proportion of them transition to a CF diagnosis, but no predictive markers can stratify which are at risk for this transition. We report single-center outcomes of children with CRMS. Methods: We retrospectively identified all infants born in Alabama from 2008 through 2020 referred to our CF Center with an elevated immunoreactive trypsinogen level (IRT) associated with a cystic fibrosis transmembrane conductance regulator (CFTR) mutation (IRT+/DNA+) who had at least one SCT result documented. Infants were classified per established guidelines as Carrier, CRMS, or CF based on the IRT+/DNA+ and SCT results. The electronic health record was reviewed for follow-up visits until the children received a definitive diagnosis (to carrier or CF) according to current diagnostic guidelines for CF, or through the end of the 2020 year. Results: Of the 1,346 infants with IRT+ and at least 1 CFTR mutation identified (IRT+/DNA+), 63 (4.7%) were designated as CRMS. Of these infants, 12 (19.1%) transitioned to Carrier status (CRMS-Carrier), 40 (63.5%) of them remained CRMS status (CRMS-Persistent) and 11 (17.5%) of them transitioned to a diagnosis of CF (CRMS-CF). Of the 11 children in the CRMS-CF group, 4 (36%) had an initial SCT 30-39 mmol/L, 4 (36%) had an initial SCT 40-49 mmol/L and 3 (27%) had an initial SCT 50-59 mmol/L. These children also had higher initial sweat tests and greater yearly increases in sweat chloride values than others with CRMS. We found that in comparison to children in the CRMS-P group, a greater proportion of children in the CRMS-CF group cultured bacteria like methicillin-resistant Staphylococcus aureus, Stenotrophomonas maltophilia, and Pseudomonas aeruginosa, had smaller weight-for-height percentiles and remained smaller over time despite slightly greater growth. Conclusion: Infants with an inconclusive diagnosis of CF should continue to receive annual care and management given their potential risk of transition to CF. Further research is needed to assess whether certain phenotypic patterns, clinical symptoms, diagnostic tests or biomarkers could better stratify these children.

Patient Characteristics and Caregiver Asthma Knowledge of Children with Well-Controlled and Poorly Controlled Asthma.

Purpose: To describe the socio-demographics and clinical characteristics of children in a pulmonology clinic or admitted to a children's hospital with well-controlled and poorly controlled asthma, and to assess caregiver knowledge of asthma pathogenesis, treatment, and self-management. Patients and Methods: A cohort of 132 children aged 2-18 years and their caregivers seen in a pediatric pulmonology clinic with a diagnosis of asthma (n=112) or admitted to the hospital with a diagnosis of asthma exacerbation (n=20) were invited to participate in a cross-sectional study. Caregivers completed a survey, which healthcare providers then used to tailor asthma education to the patient and caregiver. Two-tail t-tests and Chi-square tests were used to compare demographics and clinical characteristics of children with well-controlled vs poorly controlled asthma. Results: Of 132 children, 111 children in this cohort had poorly controlled asthma (84%). Medicaid insurance was associated with poorly controlled asthma versus well-controlled asthma (63% vs 35% p=0.01). Asthma action plans (AAP) had previously been given to 113 caregivers (86%), but caregivers of children with both well-controlled and poorly controlled asthma still reported misconceptions about asthma pathology and management, such as stopping daily medications when asthma is controlled. Conclusion: This study contributes to the existing evidence that socio-demographics have a significant impact on asthma prevalence and proper management. Our study suggests that caregivers of children with asthma need comprehensive asthma education beyond the AAP focusing on asthma-related misconceptions.