Delayed sleep wake phase disorder in adolescents: an updated review.

PURPOSE OF REVIEW: This review examines the most common circadian rhythm disorder in adolescents, delayed sleep phase disorder. It explores the etiology, prevalence, clinical features, diagnostic tools and criteria, and treatment options to identify sleep disorders early in the course. This is important to help improve youths in terms of education and quality of life. RECENT FINDINGS: Recent studies indicate that delayed sleep wake phase disorder has a range of prevalence between 1% and 16%. It is often associated with neurodevelopmental disorders (i.e. attention deficit hyperactivity disorder and autism spectrum disorder) as well as psychopathology (i.e. substance use, anxiety, and depression). It can present with a myriad of symptoms, such as insomnia, restless sleep, and poor daytime cognitive function, often seen in pediatric practice. Important diagnostic measures incorporate history-taking, sleep logs, actigraphy (i.e. Apple watches) and measurement of dim light melatonin onset. Treatments include improved sleep hygiene, chronotherapy, exogenous melatonin administration, and bright light therapy. SUMMARY: There are many environmental and genetic factors that can predispose an individual to circadian rhythm disorders. Delayed sleep phase disorder has detrimental effects on overall health, cognition, and behavior. It is important to screen for this disorder in routine pediatric clinic visits. The goal of early intervention is to prevent health and behavioral complications and treat adolescents using a multimodal approach, especially those with affective/neurodevelopmental conditions, who are prone to having delayed sleep wake phase disorder.

All shook up: how the COVID-19 pandemic rocked pediatric asthma care.

PURPOSE OF REVIEW: Asthma management is a crucial aspect of public health. The landscape of asthma management underwent significant change in the wake of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. These changes greatly affected existing patients, individuals suffering with undiagnosed illness, providers, and the healthcare system as a whole. RECENT FINDINGS: Providers had to navigate through the potential risk of exposure while weighing the benefit of office visits for patients. This promoted the rapid uptake of telemedicine and virtual outreach, as well as modifications to acute management and controller therapies. Telehealth allowed for the remote monitoring of these patient populations, increased compliance with home-based self-management, and an emphasis on patient education. Furthermore, the pandemic underscored the importance of proactive asthma management as many individuals were left untreated or undiagnosed for various reasons. It is evident that the SARS-CoV-2 pandemic reshaped the landscape of various components of the healthcare system, including asthma management, necessitating innovative approaches to monitoring and patient education. SUMMARY: Understanding the lessons learned from this time period is crucial for enhancing the resilience of our health system in the wake of future challenges that may be posed against our system.

Something to consider: rapid palatal expansion for treatment of obstructive sleep apnea in pediatric patients.

PURPOSE OF REVIEW: This review examines the potential of rapid palatal expansion (RPE) as a treatment for pediatric obstructive sleep apnea (OSA). The focus is on recent findings related to its efficacy, safety, patient selection, timing, appliance options, cost considerations, and long-term outcomes. RECENT FINDINGS: Recent studies indicate that RPE can lead to significant improvements in pediatric OSA, with a 70% reduction in the Apnea Hypopnea Index (AHI) and increased oxygen saturation levels. It has been particularly effective in children with small or absent tonsils and has been found to reduce adenoid and tonsil size. Long-term follow-up studies suggest the need for ongoing monitoring, as some patients may experience relapse over time. SUMMARY: RPE shows promise as an additional treatment for pediatric obstructive sleep apnea. It offers improvements in respiratory function and reduced symptoms in certain patients. However, long-term efficacy and safety require further investigation. Comparative studies and patient-reported outcomes are necessary to optimize treatment approaches. Collaboration between orthodontists, sleep specialists, and ear-nose-throat (ENT) specialists may be essential for optimal outcomes in pediatric OSA patients treated with RPE.

A new era in cystic fibrosis care: always changing and adapting.

PURPOSE OF REVIEW: This review focuses on sharing the current and changing cystic fibrosis (CF) care model. This includes changes in CF care as a chronic disease with availability of new revolutionary, highly effective therapies as well as incorporation of shared decision-making, coproduction of care, quality improvement, telemedicine, and remote patient monitoring. RECENT FINDINGS: Changes in the CF management, the CF patient population, and CF care team are described as well as how CF care has adapted to these changes. SUMMARY: CF is a chronic, multisystem disease requiring a large specialized multidisciplinary care team for effective treatment. With improvements in CF care and new treatments, people with CF are living longer and healthier lives. As new issues arise, the CF team needs to adapt. This was highlighted by the introduction of highly effective cystic fibrosis transmembrane conductance regulator modulator therapy, which targets the cellular defect in CF, the COVID-19 pandemic, which lead to the incorporation of telehealth and remote patient monitoring into the CF care model, and the partnering with people with CF and families through shared decision-making and coproduction.

Quality improvement for paediatric asthma care in acute settings.

PURPOSE OF REVIEW: This is a summative review of recent trends and novel programming integrated into various clinical settings (i.e. emergency departments, urgent care centres and paediatric clinics) to enhance the quality of care received by paediatric asthma patients Asthma is the most common chronic disease in paediatric patients and despite recognized national management guidelines, implementation and aftercare, especially in the emergency room, remain challenging. RECENT FINDINGS: Outcome-based systematic quality improvement initiatives are described as well as evidence-based recommendations to enhance the education of providers, patients and caregivers. SUMMARY: Many of the care initiatives described in the literature have been integrated into the emergency room. The authors feel some of these process improvements, such as pathway-based care, reducing time to delivery of medications, and personalized asthma education, may also be applicable and add value to clinical practice in additional community-based acute care settings such as urgent care centers and paediatric clinics.

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.

Infants are screened for cystic fibrosis (CF) in New York State (NYS) using an IRT-DNA algorithm. The purpose of this study was to validate and assess clinical validity of the US FDA-cleared Illumina MiSeqDx CF 139-Variant Assay (139-VA) in the diverse NYS CF population. The study included 439 infants with CF identified via newborn screening (NBS) from 2002 to 2012. All had been screened using the Abbott Molecular CF Genotyping Assay or the Hologic InPlex CF Molecular Test. All with CF and zero or one mutation were tested using the 139-VA. DNA extracted from dried blood spots was reliably and accurately genotyped using the 139-VA. Sixty-three additional mutations were identified. Clinical sensitivity of three panels ranged from 76.2% (23 mutations recommended for screening by ACMG/ACOG) to 79.7% (current NYS 39-mutation InPlex panel), up to 86.0% for the 139-VA. For all, sensitivity was highest in Whites and lowest in the Black population. Although the sample size was small, there was a nearly 20% increase in sensitivity for the Black CF population using the 139-VA (68.2%) over the ACMG/ACOG and InPlex panels (both 50.0%). Overall, the 139-VA is more sensitive than other commercially available panels, and could be considered for NBS, clinical, or research laboratories conducting CF screening.

Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.

BACKGROUND: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs). AIMS: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers. RESULTS: Overall, 194/289 (67.1%) had CFTR phasing to confirm whether the infant's CFTR variants were in cis or in trans. Eighteen complex alleles were identified in cis; known haplotypes (p.R117H+5T, p.F508del+p.L467F, and p.R74W+p.D1270N) were the most common identified. Thirty-two infants (16.5%) with all variants in cis were reclassified as CF carriers rather than CRMS/CFSPID. Among 263 infants evaluated at an NYS SCC, 70.3% were reported as having received genetic counseling about their results by any provider, with 96/263 (36.5%) counseled by a certified genetic counselor. CONCLUSION: Given the particularly complex genetic interpretation of results generated by CFNBS algorithms including sequencing analysis, additional efforts are needed to ensure families of infants with a positive CFNBS result have CFTR phasing when needed to distinguish carriers from infants with CRMS/CFSPID, and access to genetic counseling to address implications of CFNBS results.

Validation of the Integrated Palliative Care Outcome Scale (IPOS) in adults with cystic fibrosis.

BACKGROUND: A primary palliative care model for cystic fibrosis (CF) recommends using the Integrated Palliative Care Outcome Scale (IPOS) for screening. Validation of the IPOS is needed. METHODS: This secondary analysis utilized baseline data from a multisite trial of the palliative care model, Improving Life with CF. Adults with CF completed the IPOS, the Memorial Symptom Assessment Scale-CF (MSAS-CF), the CF Questionnaire-Revised (CFQ-R), the Patient Health Questionnaire (PHQ-8), the Generalized Anxiety Disorder (GAD-7), and the Perceived Stress Scale (PSS). IPOS structure was assessed using Cronbach α coefficients and a factor analysis. Construct validity was evaluated through bivariate relationships between IPOS scores and other questionnaire scores, and linear regressions assessing the extent to which the IPOS explains variance in quality-of-life domains. RESULTS: The sample comprised 256 adults with complete IPOS data. α coefficients were .86 for the IPOS total score, .81 for the Physical Symptoms subscale, .79 for the Emotional Symptoms subscale, and .63 for the Communication/Practical Issues subscale. A two-component factor structure best aligned with the current subscales. IPOS scores were significantly associated with other measures; associations with MSAS-CF and CFQ-R subscales differentiated the IPOS Physical and Emotional subscales. The IPOS total score provided unique information about the variance in the CFQ-R Physical Functioning and Respiratory Symptoms domain scores. CONCLUSIONS: In adults with CF, the IPOS has acceptable internal consistency and there is evidence of construct validity. These findings support adoption of the IPOS in the primary palliative care model for CF.

Reproductive Counseling and Care in Cystic Fibrosis: A Multidisciplinary Approach for a New Therapeutic Era.

With the advent of highly effective modulator therapies, many people with cystic fibrosis (CF) are living longer, healthier lives. Pregnancy rates for women with CF more than doubled between 2019 and 2021, reflecting increases in both planned and unplanned pregnancies. For men with CF, CF-associated infertility can be mitigated with assistive reproductive technology, yet patient knowledge of these challenges and options is variable. Preconception and prenatal counseling for individuals with CF and for parents of children with CF who wish to expand their families requires nuanced discussions to promote informed reproductive decisions, drawing from a combination of standard practice recommendations and CF-specific assessments. This review article synthesizes the current literature and practice recommendations regarding reproductive counseling and care in CF, outlining the role of genetic counseling, carrier screening, teratogen counseling, in vitro fertilization and pre-implantation genetic diagnosis, and careful assessment and management of cystic fibrosis-related diabetes when present. Via a multidisciplinary, patient-centered approach, clinicians can support adults with CF and parents of children with CF as they make informed reproductive decisions and embark on family planning.

Diagnostic and Communication Challenges in Cystic Fibrosis Newborn Screening.

As of December 2009, cystic fibrosis (CF) newborn screening (NBS) is performed in all 50 US states and the District of Columbia. Widespread implementation of CF newborn screening (CFNBS) in the US and internationally has brought about new and varied challenges. Immunoreactive trypsinogen (IRT) remains the first, albeit imperfect, biomarker used universally in the screening process. Advances in genetic testing have provided an opportunity for newborn screening programs to add CFTR sequencing tiers to their algorithms. This in turn will enable earlier identification of babies with CF and improve longer-term outcomes through prompt treatment and intervention. CFTR sequencing has led to the ability to identify infants with CF from diverse ethnic and racial backgrounds more equitably while also identifying an increasing proportion of infants with inconclusive diagnoses. Using the evolution of the New York State CF newborn screening program as a guide, this review outlines the basic steps in a universal CF newborn screening program, considers how to reduce bias, highlights challenges, offers guidance to address these challenges and provides recommendations for future consideration.

Palliative care needs among outpatient adults with cystic fibrosis: Baseline data from the Improving Life with CF trial.

BACKGROUND: Little is known about the burden of illness experienced by people with cystic fibrosis (pwCF) since the advent of CF transmembrane conductance regulator (CFTR) modulator therapies. Studies that characterize the nature of illness burden are needed to inform the development and implementation of palliative care programs that can serve this population and address quality of life concerns. METHODS: Adults with CF treated at five U.S. CF centers were surveyed to obtain baseline data for the Improving Life with CF primary palliative care implementation trial. Consenting patients completed the Integrated Palliative Care Outcome Scale (IPOS), a multidimensional measure of unmet needs for palliative care. Sociodemographic and clinical information was also obtained. The associations among these variables were examined through bivariate and multivariable analyses. RESULTS: Among 256 adults, the most distressing symptoms included not feeling "at peace", communication difficulties with family/friends, anxiety over illness or its treatment, and a lack of energy. In the multivariable analyses, CFTR modulator use was associated with lower IPOS total and physical symptoms scores; female sex and increased hospitalizations were associated with higher scores. Increased age and history of distal intestinal obstructive syndrome were associated with higher IPOS physical symptoms scores. CONCLUSIONS: These findings illuminate the nature of illness burden for pwCF in the era of CFTR modulator therapies. Although illness burden is positively affected by modulator therapy, there is a continuing need for palliative care to address physical, emotional, and spiritual distress, and the communication and practical needs experienced by adults with CF.

Development of a Cystic Fibrosis Primary Palliative Care Intervention: Qualitative Analysis of Patient and Family Caregiver Preferences.

To prevent or mitigate chronic illness burden, people with cystic fibrosis (pwCF) and their family caregivers need primary (generalist-level) palliative care from the time of diagnosis forward. We used qualitative methods to explore their preferences about a screening-and-triage model ("Improving Life with CF") developed to standardize this care. We purposively sampled and interviewed 14 pwCF and caregivers from 5 Improving Life with CF study sites. Thematic analysis was guided by a priori codes using the National Consensus Project's Guidelines for Quality Palliative Care. Participants included 7 adults and 2 adolescents with CF (3 with advanced disease), 4 parents, 1 partner (7 women; 5 people of color). Few were familiar with palliative care. Illness burden was described in multiple domains, including physical (e.g., dyspnea, pain), psychological (e.g., anxiety), and social (e.g., family well-being; impact on work/school). Most preferred survey-based screening with care coordination by the CF team. Preferences for screening approaches varied. PwCF and caregivers experience illness burden and are receptive to a CF-team delivered primary palliative care screening-and-triage model with flexible processes.

You Cannot Hit Snooze on OSA: Sequelae of Pediatric Obstructive Sleep Apnea.

Pediatric obstructive sleep apnea (OSA) has been shown to not only affect the quality of sleep, but also overall health in general. Untreated or inadequately treated OSA can lead to long-term sequelae involving cardiovascular, endothelial, metabolic, endocrine, neurocognitive, and psychological consequences. The physiological effects of pediatric OSA eventually become pathological. As the complex effects of pediatric OSA are discovered, they must be identified early so that healthcare providers can be better equipped to treat and even prevent them. Ultimately, adequate management of OSA improves overall quality of life.

The clinical impact of the Covid-19 pandemic first wave on patients with cystic fibrosis in New York.

BACKGROUND: People with cystic fibrosis (pwCF) may be at risk of complications from COVID-19 but the impact of COVID-19 on pwCF remains unknown. METHODS: We conducted a multicenter retrospective cohort study to assess the impact of the COVID-19 pandemic first wave on pwCF in the New York metropolitan area (NY) from March 1, 2020 to August 31, 2020. Objectives were to determine (1) the prevalence of COVID-19 by PCR and IgG antibody testing, (2) the clinical characteristics of COVID-19, (3) delay in routine outpatient care, and (4) the effect on anxiety and depression in pwCF. RESULTS: There were 26 COVID-19 cases diagnosed by PCR or antibody testing among the study cohort of 810 pwCF. The prevalence of COVID-19 by PCR (1.6%) and IgG antibody (12.2%) testing was low. 58% of cases were asymptomatic and 82% were managed at home. 8% were hospitalized and 1 person died. 89% of pwCF experienced delay in care. The prevalence of anxiety increased from 43% baseline to 58% during the pandemic (P<0.01). In post-hoc analysis, the proportion of patients with diabetes (38% versus 16%, P<0.01) and pancreatic insufficiency (96% versus 66%, P<0.01) were higher while CFTR modulator use was lower (46% versus 65%, P = 0.05) in pwCF who tested positive for COVID-19. CONCLUSIONS: The prevalence of COVID-19 among pwCF in NY during the pandemic first wave was low and most cases were managed at home. CFTR modulators may be protective. PwCF experienced delay in routine care and increased anxiety.

Much Ado about Sleep: Current Concepts on Mechanisms and Predisposition to Pediatric Obstructive Sleep Apnea.

Obstructive Sleep Apnea (OSA) is a form of sleep-disordered breathing characterized by upper airway collapse during sleep resulting in recurring arousals and desaturations. However, many aspects of this syndrome in children remain unclear. Understanding underlying pathogenic mechanisms of OSA is critical for the development of therapeutic strategies. In this article, we review current concepts surrounding the mechanism, pathogenesis, and predisposing factors of pediatric OSA. Specifically, we discuss the biomechanical properties of the upper airway that contribute to its primary role in OSA pathogenesis and examine the anatomical and neuromuscular factors that predispose to upper airway narrowing and collapsibility.

Intraoperative airway obstruction related to tracheostomy tube malposition in a patient with achondroplasia and Jeune's syndrome.

A 14 year-old adolescent with achondroplasia and Jeune's syndrome (asphyxiating thoracic dystrophy) presented for cervical spine surgery in the prone position. Due to the need for home mechanical ventilation at night, the patient had a tracheostomy in place. With the first surgical procedure, the cuffed tracheostomy tube was left in place during prone positioning. Difficulties encountered with ventilation through the cuffed tracheostomy tube in the prone position necessitated aborting the case. During three subsequent surgeries, the tracheostomy tube was removed and an armored endotracheal tube was placed through the tracheostomy stoma prior to prone positioning. No further difficulties with ventilation were noted with the subsequent cases. There are currently no guidelines in the medical literature regarding perioperative management of patients with a tracheostomy requiring prone positioning for surgery. The management of such patients is reviewed and possible problems with tracheostomy positioning during prone positioning are explored. Given such issues, we would suggest removal of the tracheostomy tube and placement of an armored endotracheal tube through the stoma during surgical procedures in the prone position.