Marie-Pierre F. Strippoli

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.

Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility. The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function. Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage. This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children.

Primary ciliary dyskinesia (PCD) is a hereditary disorder of mucociliary clearance causing chronic upper and lower airways disease. We determined the number of patients with diagnosed PCD across Europe, described age at diagnosis and determined risk factors for late diagnosis. Centres treating children with PCD in Europe answered questionnaires and provided anonymous patient lists. In total, 223 centres from 26 countries reported 1,009 patients aged <20 yrs. Reported cases per million children (for 5–14 yr olds) were highest in Cyprus (111), Switzerland (47) and Denmark (46). Overall, 57% were males and 48% had situs inversus. Median age at diagnosis was 5.3 yrs, lower in children with situs inversus (3.5 versus 5.8 yrs; p<0.001) and in children treated in large centres (4.1 versus 4.8 yrs; p = 0.002). Adjusted age at diagnosis was 5.0 yrs in Western Europe, 4.8 yrs in the British Isles, 5.5 yrs in Northern Europe, 6.8 yrs in Eastern Europe and 6.5 yrs in Southern Europe (p<0.001). This strongly correlated with general government expenditures on health (p<0.001). This European survey suggests that PCD in children is under-diagnosed and diagnosed late, particularly in countries with low health expenditures. Prospective studies should assess the impact this delay might have on patient prognosis and on health economic costs across Europe.

Meta-analysis of mould and dampness exposure on asthma and allergy in eight European birth cohorts: an ENRIECO initiative

To cite this article: Tischer CG, Hohmann C, Thiering E, Herbarth O, Müller A, Henderson J, Granell R, Fantini MP, Luciano L, Bergström A, Kull I, Link E, von Berg A, Kuehni CE, Strippoli M‐PF, Gehring U, Wijga A, Eller E, Bindslev‐Jensen C, Keil T, Heinrich J & as part of the ENRIECO consortium. Meta‐analysis of mould and dampness exposure on asthma and allergy in eight European birth cohorts: an ENRIECO initiative. Allergy 2011; 66: 1570–1579.

Management of primary ciliary dyskinesia in European children: recommendations and clinical practice

The European Respiratory Society Task Force on primary ciliary dyskinesia (PCD) in children recently published recommendations for diagnosis and management. This paper compares these recommendations with current clinical practice in Europe. Questionnaires were returned by 194 paediatric respiratory centres caring for PCD patients in 26 countries. In most countries, PCD care was not centralised, with a median (interquartile range) of 4 (2–9) patients treated per centre. Overall, 90% of centres had access to nasal or bronchial mucosal biopsy. Samples were analysed by electron microscopy (77%) and ciliary function tests (57%). Nasal nitric oxide was used for screening in 46% of centres and saccharine tests in 36%. Treatment approaches varied widely, both within and between countries. European region, size of centre and the country’s general government expenditure on health partly defined availability of advanced diagnostic tests and choice of treatments. In conclusion, we found substantial heterogeneity in management of PCD within and between countries, and poor concordance with current recommendations. This demonstrates how essential it is to standardise management and decrease inequality between countries. Our results also demonstrate the urgent need for research: to simplify PCD diagnosis, to understand the natural history and to test the effectiveness of interventions.

Cohort Profile: The Swiss Childhood Cancer Survivor Study

Thanks to continuous improvements in therapy, 5-year survival of childhood cancer in developed countries now exceeds 80%, leading to a growing population of long-term survivors. As the cancer and treatment can cause adverse effects long after the illness has been cured, assessment of long-term quality of life (QOL), somatic, psychological and social outcomes become increasingly important. Although cancer in children is rare, the population impact of late toxicities on disability-adjusted life years is considerable because of the young age at diagnosis. Up to now, many single-centre studies or clinical trials have been published, but only few large representative long-term follow-up studies exist, including the Childhood Cancer Survivor Studies in the USA (CCSS), Canada and Great Britain (BCCSS). These studies found increased risks of second malignant neoplasms (SMNs), mortality and chronic medical problems such as endocrine dysfunctions, cardiovascular problems, stroke or infertility. Psychosocial problems such as depression, anxiety and post-traumatic symptoms have also been reported. Life-long medical follow-up is thus recommended for high-risk patients. For these reasons, we created a national cohort study of all survivors of childhood and adolescent cancer in Switzerland, the Swiss Childhood Cancer Survivor Study (SCCSS).

Educational achievement in Swiss childhood cancer survivors compared with the general population

The objective of this study was to describe educational achievements of childhood cancer survivors in Switzerland compared with the general population. In particular, the authors investigated educational problems during childhood, final educational achievement in adulthood, and its predictors.

Wheeze and asthma prevalence and related health-service use in white and south Asian pre-schoolchildren in the United Kingdom.

Background Epidemiological data for south Asian children in the United Kingdom are contradictory, showing a lower prevalence of wheeze, but a higher rate of medical consultations and admissions for asthma compared with white children. These studies have not distinguished different asthma phenotypes or controlled for varying environmental exposures.

A parent-completed respiratory questionnaire for 1-year-old children: repeatability

Background and aims: There are few standardised questionnaires for the assessment of respiratory symptoms in preschool children. We have developed and tested the short-term repeatability of a postal questionnaire on respiratory symptoms for 1-year-old children. Methods: A newly developed postal questionnaire for the assessment of wheeze and other respiratory symptoms was sent to parents of a population-based random sample of 4300 children aged 12–24 months. After an interval of 3 months, a random sample of 800 respondents received the questionnaire a second time. The responses were compared using Cohen’s kappa (&kgr;) to assess agreement corrected for chance. Results: The first questionnaire was returned by 3194 (74%) families, the second one by 460/800 (58%). Repeatability was excellent (&kgr; 0.80–0.96) for questions on household characteristics, environmental exposures and family history, good (&kgr; 0.61–0.80) for questions on prevalence, severity and treatment of wheeze, and moderate (&kgr; 0.39–0.66) for chronic cough and upper respiratory symptoms. Conclusions: This short postal questionnaire designed for use in population-based studies has excellent repeatability for family and household characteristics and good repeatability for questions on wheeze. Short-term changes in symptom status might be responsible for variable answers on recent chronic cough and upper respiratory symptoms. Overall, the questionnaire is a valuable instrument for community-based research on respiratory symptoms in 1 to 2-year-old children.

Asthma in young south Asian women living in the United Kingdom: the importance of early life.

Background Studies of immigrants suggest that the environment during fetal life and duration of residence in the host country might influence the development of asthma. Little is known about the importance of the timing of the exposure in the host country and whether migrants might be especially vulnerable in certain age windows.

Breastfeeding and lung function at school age: does maternal asthma modify the effect?

RATIONALE The evidence for an effect of breastfeeding on lung function is conflicting, in particular whether the effect is modified by maternal asthma. OBJECTIVES To explore the association between breastfeeding and school-age lung function. METHODS In the Leicestershire Cohort Studies we assessed duration of breastfeeding (not breastfed, ≤3 months, 4-6 months, and >6 months), other exposures, and respiratory symptoms by repeated questionnaires. Post-bronchodilator FVC, FEV(1), peak expiratory flow (PEF), forced midexpiratory flow (FEF(50)), and skin prick tests were measured at age 12 years. We performed multivariable linear regression and tested potential causal pathways (N = 1,458). MEASUREMENTS AND MAIN RESULTS In the entire sample, FEF(50) was higher by 130 and 164 ml in children breastfed for 4 to 6 months and longer than 6 months, respectively, compared with those not breastfed (P = 0.048 and 0.041), with larger effects if the mother had asthma. FVC and FEV(1) were associated with breastfeeding only in children of mothers with asthma (P for interaction, 0.018 and 0.008): FVC was increased by 123 and 164 ml for those breastfed 4 to 6 months or longer than 6 months, respectively (P = 0.177 and 0.040) and FEV(1) was increased by 148 and 167 ml, respectively (P = 0.050 and 0.016). Results were unchanged after adjustment for respiratory infections in infancy and asthma and atopy in the child. CONCLUSIONS In this cohort, breastfeeding for more than 4 months was associated with increased FEF(50) and, in children of mothers with asthma, with increased FEV(1) and FVC. It seems that the effect is not mediated via avoidance of early infections or atopy but rather through a direct effect on lung growth.