Maja Jurca

Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis

Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed to identify all published studies on clinical manifestations of PCD patients, and to describe their prevalence and severity stratified by age and sex. We searched PubMed, Embase and Scopus for studies describing clinical symptoms of ≥10 patients with PCD. We performed meta-analyses and meta-regression to explain heterogeneity. We included 52 studies describing a total of 1970 patients (range 10–168 per study). We found a prevalence of 5% for congenital heart disease. For the rest of reported characteristics, we found considerable heterogeneity (I2 range 68–93.8%) when calculating the weighted mean prevalence. Even after taking into account the explanatory factors, the largest part of the between-studies variance in symptom prevalence remained unexplained for all symptoms. Sensitivity analysis including only studies with test-proven diagnosis showed similar results in prevalence and heterogeneity. Large differences in study design, selection of study populations and definition of symptoms could explain the heterogeneity in symptom prevalence. To better characterise the disease, we need larger, multicentre, multidisciplinary, prospective studies that include all age groups, use uniform diagnostics and report on all symptoms. Review of the clinical manifestations of PCD found between-study variation; large prospective studies needed http://ow.ly/Y5GC300Sw73

Age‐related changes in childhood wheezing characteristics: A whole population study

Wheezing illnesses are characterized by phenotypic variability, which changes with age, but few studies report on a wide age range of children. We studied how prevalence, severity, and triggers of wheeze vary throughout childhood.

Prevalence of cough throughout childhood: A cohort study

Background Cough in children is a common reason for medical consultations and affects quality of life. There are little population-based data on the epidemiology of recurrent cough in children and how this varies by age and sex, or between children with and without wheeze. We determined the prevalence of cough throughout childhood, comparing several standardised cough questions. We did this for the entire population and separately for girls and boys, and for children with and without wheeze. Methods In a population-based prospective cohort from Leicestershire, UK, we assessed prevalence of cough with repeated questionnaires from early childhood to adolescence. We asked whether the child usually coughed more than other children, with or without colds, had night-time cough or cough triggered by various factors (triggers, related to increased breathing effort, allergic or food triggers). We calculated prevalence from age 1 to 18 years using generalised estimating equations for all children, and for children with and without wheeze. Results Of 7670 children, 10% (95% CI 10–11%) coughed more than other children, 69% (69–70%) coughed usually with a cold, 34% to 55% age-dependently coughed without colds, and 25% (25–26%) had night-time cough. Prevalence of coughing more than peers, with colds, at night, and triggered by laughter varied little throughout childhood, while cough without colds and cough triggered by exercise, house dust or pollen became more frequent with age. Cough was more common in boys than in girls in the first decade of life, differences got smaller in early teens and reversed after the age of 14 years. All symptoms were more frequent in children with wheeze. Conclusions Prevalence of cough in children varies with age, sex and with the questions used to assess it, suggesting that comparisons between studies are only valid for similar questions and age groups.

Association between breastfeeding and eczema during childhood and adolescence: A cohort study

Background Breastfeeding is said to protect children from eczema (atopic dermatitis), but the available evidence is conflicting and subject to the influences of parental atopy and reverse causation (when mothers extended duration of breastfeeding because their children had eczema). Methods In the prospective, population-based Leicester Respiratory Cohort study, we assessed duration of breastfeeding in children aged 1–4 years. Prevalence of eczema was determined by questionnaire surveys that were repeated until the children were 17 years old. We investigated the association between having been breastfed and current eczema using generalized estimating equations, adjusting for potential confounders, and tested for effect modification by parental atopy. We also assessed the association between having been breastfed and incident eczema at ages 2, 4, and 6 years using multivariable logistic regression. Results Among the 5,676 children in the study, 2,284 (40%) had never been breastfed, while 1,610 (28%), 705 (12%), and 1,077 (19%) had been breastfed for 0–3, 4–6, and >6 months, respectively. Prevalence of current eczema decreased from 36% in 1-year-olds to 18% in children aged 10–17 years. Breastfeeding was not associated with current eczema. Compared with children who had never been breastfed, the adjusted odds ratios for current eczema at any age were 1.02 (95% confidence interval 0.90–1.15) for children who had been breastfed for 0–3 months, 0.97 (0.82–1.13) for children breastfed for 4–6 months, and 0.98 (0.85–1.14) for children breastfed for >6 months. There was no strong evidence for an effect modification by parental atopy (p-value for interaction term was 0.061) and no association between having been breastfed and incident eczema later in childhood. Conclusions This population-based cohort study found no evidence for protection of breastfeeding against childhood eczema at any age, from infancy through adolescence.

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]. Breastfeeding and respiratory tract infections http://ow.ly/Isd9309JS69

WS11.3 Newborn screening for cystic fibrosis in Switzerland – performance after 4 years

Objectives Newborn screening (NBS) for cystic fibrosis (CF) was introduced in Switzerland in 2011, based on IRT-DNA-IRT protocol. It aims to detect all children with classical CF, but to avoid identifying children with equivocal disease, called “CF screen positive, inconclusive diagnosis” (CFSPID). Here we evaluate the program describing the proportion of false negatives and the detection of CFSPID. Methods We analysed data from the national CF screening database, including all children born between January 2011 and November 2014. Children with positive screening results were referred to a CF centre for a sweat test and faecal elastase. We assessed initial IRT tests, screening results and the final diagnoses of the children. In addition, we determined the proportion of false negatively screened children and calculated the ratio CF:CFSPID. Results Within 4 years, 338,851 IRT tests were performed. In total, 364 children were screened positive and referred to a CF centre for further examination. 98 children (27% of 364) were diagnosed with CF, 13 (4%) had CFSPID, 250 (69%) were found to have no CF, and 3 (1%) were lost to follow up. In addition, 6 children with a negative screening result were clinically diagnosed with CF (5.8% false negatives – 6/104), one of them because a second heel prick test was never taken. The ratio CF:CFSPID overall was 8:1 [2011 9:1 (28/3); 2012 4:1 (26/6); 2013 21:1 (21/1) and 2014 8:1 (23/3)]. Conclusion The Swiss newborn screening program for CF performed well. False negative results are in the expected range and the ratio CF:CFSPID is acceptable. However, to increase the CF:CFSPID ratio further monitoring and adaptations are required.