Diagnosis of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to bronchiectasis in most patients. In addition to the lungs, PCD might affect multiple organ systems, and patients frequently have multiple clinical problems, which require multidisciplinary management. Diagnosis of PCD needs a combination of tests, many of which require expertise and expensive equipment. Measurement of nasal nitric oxide is the first test to consider when PCD is suspected. Detailed clinical history using available predictive scores in combination with information on functional and structural aspects of lung disease is important to identify which patients should be referred for further diagnostic testing

Breastfeeding and Respiratory Tract Infections during the First 2 Years of Life.

Breastfeeding protects against respiratory tract infections (RTIs) in infants [1–3], but whether its effects persist beyond that age is not well understood. Some studies have reported that protection diminishes soon after weaning [2], while others have found that it extends until the age of 2 years [4] or more [5, 6]. It is noteworthy that many previous studies grouped RTIs broadly into upper or lower tract infections, rather than studying specific diseases [3, 7], and few adjusted adequately for confounding factors [5] or investigated a possible effect modification by sex, which had been suggested by several studies showing a stronger protection in girls [8, 9]. This study aimed to quantify the protective effect of breastfeeding against RTIs during the first 2 years of life, while adjusting for potential confounding factors and testing whether the effect varied by sex. We analysed data from the Leicester Respiratory Cohorts, a population-based random sample of children from Leicestershire, UK, which has been described in detail elsewhere [10]. For this analysis we included only children born between 1996 and 1997 who were aged 1–1.99 years at the date of the first survey in 1998. Parents completed a standardised questionnaire that requested detailed information on breastfeeding and respiratory symptoms. We assessed the duration of breastfeeding (no breastfeeding, ⩽6 months or >6 months), the prevalence of frequent colds (>6 episodes), ear infections and croup within the last 12 months, and any episodes of bronchiolitis or pneumonia. We extracted perinatal data and demographic information from maternity records. The Leicestershire Health Authority Research Ethics Committee approved the study. The survey requested information on a number of RTIs for each child, so we first performed an omnibus logistic regression to determine whether breastfeeding was associated with the occurrence of any RTI. By reforming the data into long format, this omnibus logistic regression also adjusted for the clustering of observations within each child [11]. Following a significant omnibus test, we performed unadjusted and adjusted logistic regressions to determine which RTIs were affected by breastfeeding practice. Adjusted models controlled for sex, ethnicity, socioeconomic status (Townsend deprivation score [12]), perinatal factors (gestational age, birthweight, birth season), environmental factors ( pre- and post-natal maternal smoking, number of older siblings, day care attendance) and parental history of asthma, hay fever and bronchitis. We tested for effect modification by sex by adding interaction terms into adjusted models. Finally, we performed a sensitivity analysis including a subgroup of children with information on exact breastfeeding duration, by using breastfeeding as a continuous exposure, rather than categorical. All analyses were performed in Stata (version 14.2, Stata Corporation, Austin, TX, USA). The survey in 1998 was sent to 5400 families with children aged between 1 and 1.99 years. Questionnaires were returned by 4100 parents (response rate of 76%). After excluding 47 children who had no breastfeeding information and 13 children born extremely prematurely (gestational age of <28 weeks [13]), 4040 children remained in the analysis. Of these, 52% were boys, 81% were white and 19% were of South Asian ethnic origin, 1659 (41%) had never been breastfed, 1639 (41%) had been breastfed for ⩽6 months and 742 (18%) for >6 months. Of the 4040 included children, 769 (19%) were reported by their parents to have had frequent colds, 1685 (42%) ear infections and 293 (7%) croup within the last 12 months. Any episodes of bronchiolitis were reported for 453 children (11%) and pneumonia for 53 (1%)Peer-reviewedPublisher Versio

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. We applied questionnaires to parents and children asking about wheeze and exertional wheeze in the past year. We assessed agreement between parent–child answers with Cohen's kappa (k), and associations of answers from children and parents with fractional exhaled nitric oxide (FeNO) and forced expiratory volume in 1 s over forced vital capacity (FEV1/FVC), using quantile regression. Results We received questionnaires from 3079 children and their parents. Agreement was poor for reported wheeze (k = 0.37) and exertional wheeze (k = 0.36). Median FeNO varied when wheeze was reported by children (19 ppb, interquartile range [IQR]: 9–44), parents (22 ppb, IQR: 12–46), both (31 ppb, IQR: 16–55), or neither (11 ppb, IQR: 7–19). Median absolute FEV1/FVC was the same when wheeze was reported by children (84%, IQR: 78–89) and by parents (84%, IQR: 78–89), lower when reported by both (82%, IQR: 78–87), and higher when reported by neither (87%, IQR: 82–91). For exertional wheeze findings were similar. Results did not differ by age or sex. Conclusion Our findings suggest that surveying both parents and children and combining their responses can help us to better identify children with measurable asthma traits

LuftiBus in the school (LUIS): a population-based study on respiratory health in schoolchildren.

Respiratory disease is common in children and strongly associated with lifestyle and environmental exposures. Thus, it is important to study the epidemiology locally. The LuftiBus in the School (LUIS) study was set up to assess the respiratory health of schoolchildren in the canton of Zurich, Switzerland. LUIS is a cross-sectional population-based study that was carried out 2013 to 2016. Children aged 6&ndash;17 years living in the canton of Zurich were eligible to participate. All schools in the canton were approached and the school head decided whether the school would participate and with which classes. Consenting parents answered a standardised questionnaire at home and assenting children completed a shorter questionnaire by interview at school. Trained technicians measured children&rsquo;s lung function, including spirometry, double tracer gas single-breath washout (DTG-SBW) and fractional exhaled nitric oxide (FeNO). Address histories of participants were geocoded to be linked with area-based socioeconomic measures and environmental exposures such as spatiotemporal air pollution estimates for specific time periods and locations. A subgroup was seen again 12 months later using the same procedures to collect longitudinal data. The study included 3870 children at baseline and 655 at the 1-year follow-up. Median age was 12.7 years; 281 (8%) had wheezed in the past year. At baseline we collected 3457 (89%) parental and 3546 (92%) child questionnaires, and 3393 (88%) FeNO, 3446 (89%) spirometry, and 1795 (46%) DTG-SBW measurements. LUIS is a rich resource of health-related data, with information on lung function, environmental exposures and respiratory health on Swiss schoolchildren

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. We collected information about physical activity, physiotherapy, respiratory symptoms and nutritional status. We calculated the metabolic equivalent (MET) to better reflect the intensity of the reported physical activities. To assess nutritional status, we extracted information from CH-PCD and calculated participants' body mass index (BMI). RESULTS Of the 86 questionnaires we sent, 74 (86% response rate) were returned from 24 children and 50 adults. The median age at survey completion was 23 years (IQR [interquartile range] 15-51), and 51% were female. Among all 74 participants, 48 (65%) performed sports regularly. Children were vigorously active (median MET 9.1; IQR 7.9-9.6) and adults were moderately active (median MET 5.5; IQR 4.3-6.9). Fifty-nine participants (80%) reported performing some type of respiratory physiotherapy. However, only 30% of adults saw a professional physiotherapist, compared with 75% of children. Half of the participants had normal BMI; one child (4%) and two adults (4%) were underweight. People who were regularly physically active reported seeing a physiotherapist more often. CONCLUSIONS Our study is the first to provide patient-reported data about physical activity, respiratory physiotherapy and nutrition among people with primary ciliary dyskinesia. Our results highlight that professional respiratory physiotherapy, exercise recommendations and nutritional advice are often not implemented in the care of people with primary ciliary dyskinesia in Switzerland. Multidisciplinary care in specialised centres by teams including physiotherapists and nutrition consultants could improve the quality of life of people with primary ciliary dyskinesia

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring expensive equipment and experienced PCD scientists. This study aims to develop a practical clinical diagnostic tool to identify patients requiring testing.Patients consecutively referred for testing were studied. Information readily obtained from patient history was correlated with diagnostic outcome. Using logistic regression, the predictive performance of the best model was tested by receiver operating characteristic curve analyses. The model was simplified into a practical tool (PICADAR) and externally validated in a second diagnostic centre.Of 641 referrals with a definitive diagnostic outcome, 75 (12%) were positive. PICADAR applies to patients with persistent wet cough and has seven predictive parameters: full-term gestation, neonatal chest symptoms, neonatal intensive care admittance, chronic rhinitis, ear symptoms, situs inversus and congenital cardiac defect. Sensitivity and specificity of the tool were 0.90 and 0.75 for a cut-off score of 5 points. Area under the curve for the internally and externally validated tool was 0.91 and 0.87, respectively.PICADAR represents a simple diagnostic clinical prediction rule with good accuracy and validity, ready for testing in respiratory centres referring to PCD centres