Questionnaire-assessed genotypes and associations with symptoms in primary ciliary dyskinesia.

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Physical activity, sedentary behaviour, and childhood asthma: a European collaborative analysis.

Objectives: To investigate the associations of physical activity (PA) and sedentary behaviour in early childhood with asthma and reduced lung function in later childhood within a large collaborative study.

Design: Pooling of longitudinal data from collaborating birth cohorts using meta-analysis of separate cohort-specific estimates and analysis of individual participant data of all cohorts combined.

Setting: Children aged 0-18 years from 26 European birth cohorts.

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.

Study Question: What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD)?

Summary Answer: We found that 39 of 50 men (78%) and 72 of 118 women (61%) with PCD were infertile and that women with PCD had an increased risk of ectopic pregnancies (7.6 per 100 pregnancies, 95% CI 4.7-12.

Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.

Background: Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is important for early diagnosis and treatment. However, screening can lead to false-positive results leading to unnecessary follow-up tests and distress. This study evaluated the 11-year performance of the Swiss CF-NBS programme, estimated optimal cut-offs for immunoreactive trypsinogen (IRT), and examined how simulated algorithms would change performance.

Phenotypes of cough in children: A latent class analysis.

Introduction: Distinguishing phenotypes among children with cough helps understand underlying causes. Using a statistical data-driven approach, we aimed to identify and validate cough phenotypes based on measurable traits, physician diagnoses, and prognosis.

Methods: We used data from the Swiss Paediatric Airway Cohort and included 531 children aged 5-16 years seen in outpatient clinics since 2017.

Fertility care among people with primary ciliary dyskinesia.

Introduction: Fertility care is important for people living with primary ciliary dyskinesia (PCD) who are at increased risk of fertility problems. We investigated fertility care in an international participatory study.

Methods: Participants of the COVID-PCD study completed an online questionnaire addressing fertility issues.

Evaluation of the Double-Tracer Gas Single-Breath Washout Test in a Pediatric Field Study.

Background: The early life origins of chronic pulmonary diseases are thought to arise in peripheral small airways. Predictors of ventilation inhomogeneity, a proxy of peripheral airway function, are understudied in schoolchildren.

Research Question: Is the double-tracer gas single-breath washout (DTG-SBW) measurement feasible in a pediatric field study setting? What are the predictors of the DTG-SBW-derived ventilation inhomogeneity estimate in unselected schoolchildren?

Study Design And Methods: In this prospective cross-sectional field study, a mobile lung function testing unit visited participating schools in Switzerland.

Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study.

Diagnostic tests are important in primary ciliary dyskinesia (PCD), a rare disease, to confirm the diagnosis and characterize the disease. We compared diagnostic tests for PCD between countries worldwide, assessed whether people with PCD recall their tests, and identified factors associated with the use of tests. We used cross-sectional data from COVID-PCD-an international participatory cohort study collecting information directly from people with PCD.

Incidence and Severity of SARS-CoV-2 Infections in People With Primary Ciliary Dyskinesia.

There is little data on SARS-CoV-2 in people with rare chronic diseases. We studied incidence and severity of SARS-CoV-2 and its risk factors in people with primary ciliary dyskinesia (PCD) from May 2020 to May 2022. We used self-reported questionnaire data from the COVID-PCD study at baseline or during weekly follow-ups.

Predictors of asthma control differ from predictors of asthma attacks in children: The Swiss Paediatric Airway Cohort.

Background: It is unclear if predictors of asthma attacks are the same as those of asthma symptom control in children.

Objective: We evaluated predictors for these two outcomes in a clinical cohort study.

Methods: The Swiss Paediatric Airway Cohort (SPAC) is a multicentre prospective clinical cohort of children referred to paediatric pulmonologists.

Phenotypic characteristics, healthcare use, and treatment in children with night cough compared with children with wheeze.

Objectives: Population-based studies of children with dry night cough alone compared with those who also wheeze are few and inconclusive. We compared how children with dry night cough differ from those who wheeze.

Methods: LuftiBus in the school is a population-based study of schoolchildren conducted between 2013 and 2016 in Zurich, Switzerland.

Prevalence of childhood cough in epidemiological studies depends on the question used: findings from two population-based studies.

Background: Epidemiological studies use different questions to assess recurrent cough in children. In two independent population-based studies, we assessed how prevalence estimates of cough vary depending on the questions parents are asked about their child's cough and how answers to the different questions overlap.

Methods: We analysed cross-sectional data from two population-based studies on respiratory health: LuftiBus in the School (LUIS), conducted in 2013-2016 among 6- to 17-year-school children in the Canton of Zurich, Switzerland, and the 1998 Leicester Respiratory Cohort (LRC) study, UK where we used data from 6- to 8-year-old children from the 2003 follow-up survey.

Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis.

Objective: Newborn screening (NBS) for cystic fibrosis (CF) was introduced in Switzerland in 2011 based on an immunoreactive trypsinogen (IRT)-DNA-IRT protocol. CF diagnosis was confirmed by sweat test and/or genetics but remained inconclusive for some newborns (cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS)/CF screen positive, inconclusive diagnosis (CFSPID)). We aimed to (1) Describe IRT levels in healthy newborns in the first year of life and by gestational age (GA), and (2) Compare IRT at two time points between healthy newborns and newborns with CF and CRMS/CFSPID.

Standardization of Reporting Obstructive Airway Disease in Children: A National Delphi Process.

Background: Pediatric pulmonologists report asthma and obstructive bronchitis in medical records in a variety of ways, and there is no consensus for standardized reporting.

Objective: We investigated which diagnostic labels and features pediatric pulmonologists use to describe obstructive airway disease in children and aimed to reach consensus for standardized reporting.

Methods: We obtained electronic health records from 562 children participating in the Swiss Pediatric Airway Cohort from 2017 to 2018.

Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland - a cross-sectional survey.

Aims Of The Study: We know little about the level of physical activity, respiratory physiotherapy practices and nutritional status of people with primary ciliary dyskinesia (PCD), although these are important aspects of patients with chronic respiratory disease. We assessed physical activity, respiratory physiotherapy practices and nutritional status among people with primary ciliary dyskinesia in Switzerland, investigated how these vary by age and identified factors associated with regular physical activity.

Methods: We sent a postal questionnaire survey to people with primary ciliary dyskinesia enrolled in the Swiss PCD registry (CH-PCD), based on the standardised FOLLOW-PCD patient questionnaire.

External validation of the Predicting Asthma Risk in Children tool in a clinical cohort.

Introduction: The Predicting Asthma Risk in Children (PARC) tool uses questionnaire-based respiratory symptoms collected from preschool children to predict asthma risk 5 years later. The tool was developed and validated in population cohorts but not validated using a clinical cohort. We aimed to externally validate the PARC tool in a pediatric pulmonology clinic setting.

Early-life respiratory tract infections and the risk of school-age lower lung function and asthma: a meta-analysis of 150 000 European children.

Background: Early-life respiratory tract infections might affect chronic obstructive respiratory diseases, but conclusive studies from general populations are lacking. Our objective was to examine if children with early-life respiratory tract infections had increased risks of lower lung function and asthma at school age.

Methods: We used individual participant data of 150 090 children primarily from the EU Child Cohort Network to examine the associations of upper and lower respiratory tract infections from age 6 months to 5 years with forced expiratory volume in 1 s (FEV), forced vital capacity (FVC), FEV/FVC, forced expiratory flow at 75% of FVC (FEF) and asthma at a median (range) age of 7 (4-15) years.

Age and body mass index affect fit of spirometry Global Lung Function Initiative references in schoolchildren.

Background: References from the Global Lung Function Initiative (GLI) are widely used to interpret children's spirometry results. We assessed fit for healthy schoolchildren.

Methods: LuftiBus in the School was a population-based cross-sectional study undertaken in 2013-2016 in the canton of Zurich, Switzerland.

Respiratory symptoms of Swiss people with primary ciliary dyskinesia.

Background: Mostly derived from chart reviews, where symptoms are recorded in a nonstandardised manner, clinical data about primary ciliary dyskinesia (PCD) are inconsistent, which leads to missing and unreliable information. We assessed the prevalence and frequency of respiratory and ear symptoms and studied differences by age and sex among an unselected population of Swiss people with PCD.

Methods: We sent a questionnaire that included items from the FOLLOW-PCD standardised questionnaire to all Swiss PCD registry participants.

Lung function from school age to adulthood in primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) presents with symptoms early in life and the disease course may be progressive, but longitudinal data on lung function are scarce. This multinational cohort study describes lung function trajectories in children, adolescents and young adults with PCD. We analysed data from 486 patients with repeated lung function measurements obtained between the age of 6 and 24 years from the International PCD Cohort and calculated z-scores for forced expiratory volume in 1 s (FEV), forced vital capacity (FVC) and FEV/FVC ratio using the Global Lung Function Initiative 2012 references.

Facemask Usage Among People With Primary Ciliary Dyskinesia During the COVID-19 Pandemic: A Participatory Project.

Primary ciliary dyskinesia (PCD) is a rare genetic disease that causes recurrent respiratory infections. People with PCD may be at high risk of severe COVID-19 and protection against SARS-CoV-2 is therefore important. We studied facemask usage and problems reported in relation with their use among people with PCD.

COVID-19 Vaccinations: Perceptions and Behaviours in People with Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare genetic disease that causes recurrent respiratory infections. People with PCD may be at higher risk of severe coronavirus disease 2019 (COVID-19), and therefore vaccination against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is important. We studied vaccination willingness, speed of vaccination uptake, side effects, and changes in social contact behaviour after vaccination in people with PCD.

Treatment Decisions in Children With Asthma in a Real-Life Clinical Setting: The Swiss Paediatric Airway Cohort.

Background: Asthma treatment should be modified according to symptom control and future risk, but there are scarce data on what drives treatment adjustments in routine tertiary care.

Objective: We studied factors that drive asthma treatment adjustment in pediatric outpatient clinics.

Methods: We performed a cross-sectional analysis of the Swiss Paediatric Airway Cohort, a clinical cohort of 0- to 16-year-old children seen by pediatric pulmonologists.

Agreement of parent- and child-reported wheeze and its association with measurable asthma traits.

Objectives: In epidemiological studies, childhood asthma is usually assessed with questionnaires directed at parents or children, and these may give different answers. We studied how well parents and children agreed when asked to report symptoms of wheeze and investigated whose answers were closer to measurable traits of asthma.

Methods: LuftiBus in the school is a cross-sectional survey of respiratory health among Swiss schoolchildren aged 6-17 years.